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See other C4A CNV Assays ›
Gene Symbol
C4A
Assay Reference Genome
Location

Chr.6:31996081 on build GRCh38
Cytoband
Assay ID Hs07226349_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 720

Gene Name:

 complement C4A (Chido/Rodgers blood group)

Gene Aliases:

 C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG

Location:

 Chr.6:3229830-3250455 on Build GRCh38

Assay Gene Location:

 Overlaps Exon 26 - Intron 26
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4A NM_001252204.2 NP_001239133.1
NM_007293.3 NP_009224.2
AB209989.1 BAE06071.2
AK293191.1 BAG56731.1
BC063289.1 AAH63289.1
BC146673.1 AAI46674.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv602038 Chr.6:31993705 - 32006368 on Build GRCh38 Loss C4A CYP21A1P
dgv10474n54 Chr.6:31996009 - 32014996 on Build GRCh38 Gain TNXA C4A CYP21A1P C4B
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion HLA-DQB1 ZBTB22 HLA-DPB2 ATP6V1G2 HLA-DPB1 GPSM3 WHR1 MIR1236 PPP1R2P1 TNF HSPA1B VARS1 HLA-DRA SNORD117 HCG24 HLA-DOA PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 KIFC1 SNORA38 MSH5 ABHD16A HLA-DRB5 PSMB9 DXO C4B LY6G6C BRD2 SNHG32 SLC44A4 SKIC2 MIR6873 SYNGAP1-AS1 LOC105375021 LSM2 LOC100287329 NELFE TAP2 NFKBIL1 NEU1 SNORD48 EGFL8 PSMB8-AS1 LY6G5B MIR6833 VPS52 HLA-DRB1 C2 AGER LOC100294145 CYP21A1P CYP21A2 LY6G6D SAPCD1 MICB TNXB SNORD52 HLA-DPA1 APOM LST1 MIR6834 SYNGAP1 MPIG6B HSPA1L HCP5 DAXX HLA-DQA2 HCG25 PSMB8 DDX39B-AS1 AGPAT1 LY6G6F BTNL2 NCR3 RPS18 VWA7 TSBP1-AS1 MCCD1 ATF6B RXRB SLC39A7 MIR4646 HLA-DQB2 LOC102725019 HLA-DMB MIR5004 AIF1 WDR46 COL11A2 B3GALT4 LOC124901302 LTA SAPCD1-AS1 TAP1 GPANK1 LTB MIR6721 BAG6 HLA-DQB1-AS1 ZBTB9 RNF5 RGL2 LOC105375022 HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A SMIM40 MIR219A1 PHF1 C6orf47 DDAH2 TAPBP CUTA PFDN6 MIR6832 FKBPL TNXA HCG26 CFB C4A EHMT2-AS1 HLA-DMA PRRT1 CSNK2B PBX2 HSD17B8 HLA-DOB LY6G6E DDX39B EHMT2 MIR3135B MSH5-SAPCD1 TSBP1 MICB-DT CLIC1 HSPA1A LY6G5C LY6G6F-LY6G6D C2-AS1 ATP6V1G2-DDX39B RING1 PPT2
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss APOM LST1 MPIG6B HSPA1L HCP5 ATP6V1G2 DDX39B-AS1 AGPAT1 GPSM3 WHR1 LY6G6F MIR1236 BTNL2 NCR3 VWA7 TNF HSPA1B TSBP1-AS1 VARS1 HLA-DRA MCCD1 ATF6B SNORD117 MIR4646 AIF1 PPT2-EGFL8 HCG23 NOTCH4 LTA SNORA38 SAPCD1-AS1 GPANK1 MSH5 LTB ABHD16A MIR6721 BAG6 MIR6891 RNF5 DXO C4B LY6G6C ZBTB12 SNORD84 LOC100507547 PRRC2A C6orf47 SNHG32 SLC44A4 SKIC2 DDAH2 MIR6832 FKBPL LSM2 TNXA HCG26 LOC100287329 NELFE CFB C4A NFKBIL1 EHMT2-AS1 PRRT1 CSNK2B MICA PBX2 HLA-B NEU1 SNORD48 EGFL8 LY6G6E DDX39B LY6G5B MIR6833 EHMT2 MSH5-SAPCD1 TSBP1 MICB-DT CLIC1 C2 HSPA1A MICA-AS1 AGER LINC01149 LY6G5C LY6G6F-LY6G6D CYP21A1P CYP21A2 LY6G6D C2-AS1 ATP6V1G2-DDX39B SAPCD1 MICB TNXB PPT2 SNORD52
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss TNXA C4A CYP21A1P CYP21A2 C4B TNXB
esv32938 Chr.6:31996100 - 32006286 on Build GRCh38 Gain C4A CYP21A1P
nsv5247 Chr.6:31957962 - 32055439 on Build GRCh38 Deletion TNXA WHR1 NELFE C4A SKIC2 CYP21A1P CYP21A2 DXO C4B TNXB
nsv6402266 Chr.6:31522086 - 32653908 on Build GRCh38 Duplication APOM LST1 MPIG6B HSPA1L ATP6V1G2 DDX39B-AS1 AGPAT1 GPSM3 WHR1 LY6G6F MIR1236 BTNL2 NCR3 VWA7 TNF HSPA1B TSBP1-AS1 VARS1 HLA-DRA MCCD1 ATF6B SNORD117 MIR4646 AIF1 PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 LTA SNORA38 SAPCD1-AS1 GPANK1 MSH5 LTB ABHD16A HLA-DRB5 MIR6721 BAG6 RNF5 DXO C4B LY6G6C HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A C6orf47 SNHG32 SLC44A4 SKIC2 DDAH2 MIR6832 FKBPL LSM2 TNXA LOC100287329 NELFE CFB C4A NFKBIL1 EHMT2-AS1 PRRT1 CSNK2B PBX2 NEU1 SNORD48 EGFL8 LY6G6E DDX39B LY6G5B MIR6833 EHMT2 MSH5-SAPCD1 TSBP1 HLA-DRB1 CLIC1 C2 HSPA1A AGER LY6G5C LY6G6F-LY6G6D CYP21A1P CYP21A2 LY6G6D C2-AS1 ATP6V1G2-DDX39B SAPCD1 TNXB PPT2 SNORD52
esv3333985 Chr.6:31990996 - 32007795 on Build GRCh38 Duplication C4A CYP21A1P
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain TNXA WHR1 C4A CYP21A1P CYP21A2 DXO C4B TNXB
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss LOC100507547 SKIC2 FKBPL TNXA AGPAT1 GPSM3 WHR1 MIR1236 NELFE CFB C4A ATF6B PRRT1 PBX2 PPT2-EGFL8 NOTCH4 EGFL8 MIR6833 C2 MIR6721 AGER CYP21A1P RNF5 CYP21A2 DXO C4B C2-AS1 TNXB PPT2
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss APOM LST1 MPIG6B HSPA1L HCP5 ATP6V1G2 DDX39B-AS1 WHR1 LY6G6F MIR1236 NCR3 VWA7 TNF HSPA1B VARS1 MCCD1 SNORD117 MIR4646 AIF1 LTA SNORA38 SAPCD1-AS1 GPANK1 MSH5 LTB ABHD16A BAG6 MIR6891 DXO C4B LY6G6C ZBTB12 SNORD84 PRRC2A C6orf47 SNHG32 SLC44A4 SKIC2 DDAH2 MIR6832 LSM2 TNXA HCG26 LOC100287329 NELFE CFB C4A NFKBIL1 EHMT2-AS1 CSNK2B MICA HLA-B NEU1 SNORD48 LY6G6E DDX39B LY6G5B EHMT2 MSH5-SAPCD1 MICB-DT CLIC1 C2 HSPA1A MICA-AS1 LINC01149 LY6G5C LY6G6F-LY6G6D CYP21A1P CYP21A2 LY6G6D C2-AS1 ATP6V1G2-DDX39B SAPCD1 MICB TNXB SNORD52
nsv601991 Chr.6:31984179 - 32005239 on Build GRCh38 Loss C4A
nsv602034 Chr.6:31991487 - 32002199 on Build GRCh38 Loss C4A
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss TNXA WHR1 C4A CYP21A1P CYP21A2 C4B TNXB
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain TNXA C4A CYP21A1P CYP21A2 C4B TNXB
nsv6140684 Chr.6:31981100 - 32046000 on Build GRCh38 Duplication TNXA WHR1 C4A CYP21A1P CYP21A2 C4B TNXB
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss TNXA C4A CYP21A1P CYP21A2 C4B TNXB
nsv6003594 Chr.6:31991052 - 32017425 on Build GRCh38 Duplication TNXA C4A CYP21A1P C4B
dgv1019n145 Chr.6:29873402 - 32666862 on Build GRCh38 Deletion HLA-DQB1 ABCF1 MUC22 HLA-H ATP6V1G2 POLR1HASP MIR877 GPSM3 WHR1 MIR1236 TRIM40 CDSN TNF HSPA1B VARS1 HLA-DRA SNORD117 FLOT1 DDR1 PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 TRIM31-AS1 SNORA38 PPP1R10 MSH5 HCP5B TUBB ABHD16A HLA-DRB5 HLA-L ATAT1 DXO C4B LY6G6C POLR1H LINC02571 TRIM10 TRIM15 SNHG32 LOC124901299 SLC44A4 SKIC2 MUC21 C6orf15 RPP21 LSM2 LOC100287329 NELFE SFTA2 C6orf136 NFKBIL1 MUCL3 TRIM31 NEU1 SNORD48 TRIM26 EGFL8 HCG4B LY6G5B MIR6833 HLA-DRB1 HCG27 C2 TRIM39 MICA-AS1 AGER POU5F1 HCG22 CYP21A1P CYP21A2 LY6G6D LINC02570 SAPCD1 MICB TNXB SNORD52 PRR3 APOM PSORS1C1 LST1 HLA-C MPIG6B HSPA1L HCP5 IER3 DDX39B-AS1 HLA-A AGPAT1 LY6G6F LINC00243 BTNL2 HCG9 NCR3 VWA7 TSBP1-AS1 MCCD1 ATF6B MIR4646 HLA-K DHX16 AIF1 LOC105375012 HCG20 LTA LINC02569 MRPS18B SAPCD1-AS1 GPANK1 LTB VARS2 MIR6721 RNF39 BAG6 HLA-DQB1-AS1 MIR6891 RNF5 IER3-AS1 PPP1R11 HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A PSORS1C3 C6orf47 HLA-E DDAH2 HCG21 CCHCR1 PPP1R18 MIR6832 FKBPL TNXA HCG26 CFB NRM C4A TRIM39-RPP21 EHMT2-AS1 PRRT1 CSNK2B MICA GTF2H4 PBX2 GNL1 HLA-B HCG18 TCF19 LY6G6E PSORS1C2 DDX39B EHMT2 MSH5-SAPCD1 TSBP1 MICB-DT CLIC1 MIR4640 HSPA1A HCG17 LINC01149 LY6G5C MDC1 LY6G6F-LY6G6D MDC1-AS1 C2-AS1 ATP6V1G2-DDX39B PPT2 HLA-J
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss TNXA WHR1 C4A CYP21A1P CYP21A2 C4B TNXB
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss TNXA WHR1 C4A CYP21A1P C4B
dgv1021n145 Chr.6:31344011 - 32666862 on Build GRCh38 Duplication HLA-DQB1 ATP6V1G2 GPSM3 WHR1 MIR1236 TNF HSPA1B VARS1 HLA-DRA SNORD117 PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 SNORA38 MSH5 ABHD16A HLA-DRB5 DXO C4B LY6G6C SNHG32 SLC44A4 SKIC2 LSM2 LOC100287329 NELFE NFKBIL1 NEU1 SNORD48 EGFL8 LY6G5B MIR6833 HLA-DRB1 C2 MICA-AS1 AGER CYP21A1P CYP21A2 LY6G6D SAPCD1 MICB TNXB SNORD52 APOM LST1 MPIG6B HSPA1L HCP5 DDX39B-AS1 AGPAT1 LY6G6F BTNL2 NCR3 VWA7 TSBP1-AS1 MCCD1 ATF6B MIR4646 AIF1 LTA SAPCD1-AS1 GPANK1 LTB MIR6721 BAG6 HLA-DQB1-AS1 MIR6891 RNF5 HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A C6orf47 DDAH2 MIR6832 FKBPL TNXA HCG26 CFB C4A EHMT2-AS1 PRRT1 CSNK2B MICA PBX2 HLA-B LY6G6E DDX39B EHMT2 MSH5-SAPCD1 TSBP1 MICB-DT CLIC1 HSPA1A LINC01149 LY6G5C LY6G6F-LY6G6D C2-AS1 ATP6V1G2-DDX39B PPT2
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss HLA-DQB1 AGPAT1 GPSM3 WHR1 MIR1236 BTNL2 HSPA1B TSBP1-AS1 HLA-DRA ATF6B PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 HLA-DRB5 MIR6721 HLA-DQB1-AS1 RNF5 DXO C4B HLA-DRB6 ZBTB12 LOC100507547 SNHG32 SLC44A4 SKIC2 FKBPL TNXA NELFE CFB C4A EHMT2-AS1 PRRT1 PBX2 NEU1 SNORD48 EGFL8 MIR6833 EHMT2 TSBP1 HLA-DRB1 C2 HSPA1A AGER CYP21A1P CYP21A2 C2-AS1 TNXB PPT2 SNORD52
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss HLA-DRB6 HLA-DQB1 LOC100507547 HLA-DQA2 FKBPL TNXA AGPAT1 GPSM3 BTNL2 C4A TSBP1-AS1 HLA-DRA ATF6B PRRT1 HLA-DQB2 LOC102725019 PBX2 PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 EGFL8 MIR6833 MIR3135B TSBP1 HLA-DRB1 HLA-DRB5 MIR6721 AGER HLA-DQB1-AS1 CYP21A1P RNF5 CYP21A2 C4B TNXB PPT2
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion APOM LST1 MPIG6B HSPA1L HCP5 ATP6V1G2 DDX39B-AS1 AGPAT1 GPSM3 WHR1 LY6G6F MIR1236 BTNL2 NCR3 VWA7 TNF HSPA1B TSBP1-AS1 VARS1 HLA-DRA MCCD1 ATF6B SNORD117 MIR4646 AIF1 PPT2-EGFL8 HCG23 NOTCH4 LTA SNORA38 SAPCD1-AS1 GPANK1 MSH5 LTB ABHD16A HLA-DRB5 MIR6721 BAG6 RNF5 DXO C4B LY6G6C HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A C6orf47 SNHG32 SLC44A4 SKIC2 DDAH2 MIR6832 FKBPL LSM2 TNXA HCG26 LOC100287329 NELFE CFB C4A NFKBIL1 EHMT2-AS1 PRRT1 CSNK2B PBX2 NEU1 SNORD48 EGFL8 LY6G6E DDX39B LY6G5B MIR6833 EHMT2 MSH5-SAPCD1 TSBP1 MICB-DT HLA-DRB1 CLIC1 C2 HSPA1A AGER LY6G5C LY6G6F-LY6G6D CYP21A1P CYP21A2 LY6G6D C2-AS1 ATP6V1G2-DDX39B SAPCD1 MICB TNXB PPT2 SNORD52
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion HLA-DQB1 ZBTB22 HLA-DPB2 ATP6V1G2 HLA-DPB1 GPSM3 WHR1 MIR1236 PPP1R2P1 TNF HSPA1B VARS1 HLA-DRA SNORD117 HCG24 HLA-DOA PPT2-EGFL8 HCG23 NOTCH4 HLA-DQA1 KIFC1 SNORA38 MSH5 ABHD16A HLA-DRB5 PSMB9 DXO C4B LY6G6C BRD2 SNHG32 SLC44A4 SKIC2 MIR6873 SYNGAP1-AS1 LOC105375021 LSM2 LOC100287329 NELFE TAP2 NFKBIL1 NEU1 SNORD48 EGFL8 PSMB8-AS1 LY6G5B MIR6833 VPS52 HLA-DRB1 C2 AGER LOC100294145 CYP21A1P CYP21A2 LY6G6D SAPCD1 MICB TNXB SNORD52 HLA-DPA1 APOM LST1 MIR6834 SYNGAP1 MPIG6B HSPA1L HCP5 DAXX HLA-DQA2 HCG25 PSMB8 DDX39B-AS1 AGPAT1 LY6G6F BTNL2 NCR3 RPS18 VWA7 TSBP1-AS1 MCCD1 ATF6B RXRB SLC39A7 MIR4646 HLA-DQB2 LOC102725019 HLA-DMB MIR5004 AIF1 WDR46 COL11A2 B3GALT4 LOC124901302 LTA SAPCD1-AS1 TAP1 GPANK1 LTB MIR6721 BAG6 HLA-DQB1-AS1 ZBTB9 RNF5 RGL2 LOC105375022 HLA-DRB6 ZBTB12 SNORD84 LOC100507547 PRRC2A SMIM40 MIR219A1 PHF1 C6orf47 DDAH2 TAPBP CUTA PFDN6 MIR6832 FKBPL TNXA HCG26 CFB C4A EHMT2-AS1 HLA-DMA PRRT1 CSNK2B PBX2 HSD17B8 HLA-DOB LY6G6E DDX39B EHMT2 MIR3135B MSH5-SAPCD1 TSBP1 MICB-DT CLIC1 HSPA1A LY6G5C LY6G6F-LY6G6D C2-AS1 ATP6V1G2-DDX39B RING1 PPT2
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss TNXA C4A CYP21A1P C4B
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication TNXA WHR1 C4A CYP21A1P CYP21A2 C4B TNXB
nsv6015913 Chr.6:31984691 - 32023790 on Build GRCh38 Deletion TNXA C4A CYP21A1P C4B
nsv823506 Chr.6:31995856 - 32006489 on Build GRCh38 Loss C4A CYP21A1P
nsv6007166 Chr.6:31980532 - 32046126 on Build GRCh38 Duplication TNXA WHR1 C4A CYP21A1P CYP21A2 C4B TNXB
nsv3382456 Chr.6:31995101 - 32011700 on Build GRCh38 Duplication TNXA C4A CYP21A1P

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More Information


Important Information

The Hs07226349_cn assay specifically detects the C4A gene, a member of the C4 gene family which contains genes encoding functionally distinct C4A and C4B protein isoforms. Assay Hs07226350_cn is available to detect the C4B gene. Long and short forms of the C4 genes exist due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus inserted into intron 9. Assay Hs07226352_cn detects the long form (aka C4L) and Hs07226351_cn detects the short form (aka C4S) of the C4A and C4B genes. Individuals can have deletions or multiple copies of the C4 genes. The number of C4A and C4B genes equals the number of C4 long and C4 short gene forms in an individual.
Hs07226350_cn assay for C4B gene

Additional Information:

Set Membership:

 Intragenic Non-exonic DGV Variation Validated

Gene Ontology Categories:

Function(s) Process(es)


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