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See other CACNA1C CNV Assays ›
Gene Symbol
CACNA1C
Assay Reference Genome
Location

Chr.12:758140 on build GRCh38
Cytoband
Assay ID Hs03827235_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 775

Gene Name:

 calcium voltage-gated channel subunit alpha1 C

Gene Aliases:

 CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8

Location:

 Chr.12:311696-1046066 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1C

Target Gene Details

Entrez Gene ID:

 65125

Gene Name:

 WNK lysine deficient protein kinase 1

Gene Aliases:

 HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65

Location:

 Chr.12:752579-911452 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
WNK1 NM_001184985.2 NP_001171914.1
NM_014823.3 NP_055638.2
NM_018979.4 NP_061852.3
NM_213655.5 NP_998820.3
XM_006719003.3 XP_006719066.1
XM_011520997.4 XP_011519299.1
XM_011520998.3 XP_011519300.1
XM_011520999.3 XP_011519301.1
XM_011521000.3 XP_011519302.1
XM_011521001.3 XP_011519303.1
XM_011521002.3 XP_011519304.1
XM_011521003.3 XP_011519305.1
XM_011521006.3 XP_011519308.1
XM_011521007.3 XP_011519309.1
XM_011521008.3 XP_011519310.1
XM_011521009.3 XP_011519311.1
XM_017019834.2 XP_016875323.1
XM_017019835.2 XP_016875324.1
XM_017019836.2 XP_016875325.1
XM_017019837.2 XP_016875326.1
XM_017019838.2 XP_016875327.1
XM_047429374.1 XP_047285330.1
XM_047429375.1 XP_047285331.1
XM_047429376.1 XP_047285332.1
XM_047429377.1 XP_047285333.1
XM_047429378.1 XP_047285334.1
XM_047429379.1 XP_047285335.1
XM_047429380.1 XP_047285336.1
XM_047429381.1 XP_047285337.1
XM_047429382.1 XP_047285338.1
XM_047429383.1 XP_047285339.1
XM_047429384.1 XP_047285340.1
XM_047429385.1 XP_047285341.1
XM_047429386.1 XP_047285342.1
XM_047429387.1 XP_047285343.1
XM_047429388.1 XP_047285344.1
XM_047429389.1 XP_047285345.1
XM_047429390.1 XP_047285346.1
XM_047429391.1 XP_047285347.1
XM_047429392.1 XP_047285348.1
XM_047429393.1 XP_047285349.1
XM_047429394.1 XP_047285350.1
XM_047429395.1 XP_047285351.1
XM_047429396.1 XP_047285352.1
XM_047429397.1 XP_047285353.1
XM_047429398.1 XP_047285354.1
XM_047429399.1 XP_047285355.1
XM_047429400.1 XP_047285356.1
XM_047429401.1 XP_047285357.1
XM_047429402.1 XP_047285358.1
AB002342.2 BAA20802.2
AF061944.1 AAF31483.1
AJ296290.1 CAC15059.1
BC141881.1 AAI41882.1
JQ358908.1 AEY99342.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2760688 Chr.12:746699 - 767080 on Build GRCh38 Loss WNK1 CACNA1C
esv3548603 Chr.12:756648 - 766334 on Build GRCh38 Deletion WNK1 CACNA1C
nsv826175 Chr.12:757211 - 765961 on Build GRCh38 Loss WNK1 CACNA1C
nsv1119925 Chr.12:739873 - 764441 on Build GRCh38 Deletion WNK1 CACNA1C
nsv5585670 Chr.12:757634 - 765616 on Build GRCh38 Deletion WNK1 CACNA1C
nsv4200677 Chr.12:676834 - 965834 on Build GRCh38 Deletion WNK1 CACNA1C RAD52 LINC02455
nsv1159950 Chr.12:754908 - 760032 on Build GRCh38 Duplication WNK1 CACNA1C
nsv3226829 Chr.12:754178 - 771230 on Build GRCh38 Deletion WNK1 CACNA1C
esv3693103 Chr.12:727947 - 862151 on Build GRCh38 Gain WNK1 CACNA1C
nsv6473636 Chr.12:744801 - 771800 on Build GRCh38 Duplication WNK1 CACNA1C
dgv2259n54 Chr.12:757691 - 765362 on Build GRCh38 Loss WNK1 CACNA1C
nsv6472806 Chr.12:676203 - 965963 on Build GRCh38 Duplication WNK1 CACNA1C RAD52 LINC02455
dgv2253n54 Chr.12:741122 - 859323 on Build GRCh38 Loss WNK1 CACNA1C
dgv1335n100 Chr.12:739562 - 764851 on Build GRCh38 Loss WNK1 CACNA1C
nsv556899 Chr.12:741447 - 813242 on Build GRCh38 Loss WNK1 CACNA1C
esv2759875 Chr.12:225844 - 881378 on Build GRCh38 Gain+Loss CACNA1C-IT3 GALNT9 KDM5A LRP6 LINC00940 TAS2R45 CCDC77 PRB1 PRB4 B4GALNT3 TAS2R46 LOC102723544 MANSC1 LOC101928416 TAS2R30 CACNA1C-AS4 SLC6A13 CACNA2D4 CACNA1C-IT2 PRB3 LOH12CR2 PRH1-PRR4 TAS2R43 WNK1 PRH1 LINC02455 NINJ2 TAS2R42 DUSP16 CACNA1C SMIM10L1 PRH1-TAS2R14 TAS2R31 BORCS5 DCP1B LOC105369595 NINJ2-AS1
nsv556893 Chr.12:628064 - 873155 on Build GRCh38 Gain CACNA1C-IT3 WNK1 CACNA1C LINC02455 NINJ2 NINJ2-AS1
nsv6470656 Chr.12:729401 - 773400 on Build GRCh38 Duplication WNK1 CACNA1C
nsv437133 Chr.12:756804 - 779154 on Build GRCh38 Loss WNK1 CACNA1C
dgv2254n54 Chr.12:753823 - 764839 on Build GRCh38 Loss WNK1 CACNA1C
nsv1038532 Chr.12:754667 - 767068 on Build GRCh38 Gain WNK1 CACNA1C
nsv556887 Chr.12:523074 - 758338 on Build GRCh38 Gain DUSP16 CACNA1C-IT3 WNK1 CACNA1C CACNA1C-AS4 LINC02455 NINJ2 PRB1 LOC105369595 NINJ2-AS1 B4GALNT3
nsv5916879 Chr.12:676159 - 1623296 on Build GRCh38 Deletion FBXL14 LINC00942 CACNA1C-AS1 WNK1 CACNA1C ERC1 RAD52 LINC02455 WNT5B LOC107984507 CACNA1C-AS2
nsv8888 Chr.12:757189 - 765967 on Build GRCh38 Gain WNK1 CACNA1C
dgv41n73 Chr.12:757620 - 767334 on Build GRCh38 Deletion WNK1 CACNA1C
nsv6471636 Chr.12:757601 - 764500 on Build GRCh38 Deletion WNK1 CACNA1C
nsv4431837 Chr.12:757640 - 765617 on Build GRCh38 Deletion WNK1 CACNA1C
nsv6465049 Chr.12:755001 - 761400 on Build GRCh38 Duplication WNK1 CACNA1C
dgv254e199 Chr.12:757309 - 767244 on Build GRCh38 Deletion WNK1 CACNA1C
dgv2251n54 Chr.12:553282 - 1101718 on Build GRCh38 Gain CACNA1C-IT3 WNK1 LINC02455 NINJ2 B4GALNT3 CACNA1C-AS1 CACNA1C CACNA1C-AS4 ERC1 RAD52 CACNA1C-AS2 LOC105369595 NINJ2-AS1
dgv431e212 Chr.12:756526 - 766139 on Build GRCh38 Loss WNK1 CACNA1C
nsv6021790 Chr.12:757639 - 765617 on Build GRCh38 Deletion WNK1 CACNA1C
nsv6458989 Chr.12:576943 - 1155433 on Build GRCh38 Duplication CACNA1C-AS1 CACNA1C-IT3 WNK1 CACNA1C ERC1 RAD52 LINC02455 CACNA1C-AS2 NINJ2 LOC105369595 NINJ2-AS1
nsv819875 Chr.12:757124 - 765317 on Build GRCh38 Gain WNK1 CACNA1C
esv24614 Chr.12:757566 - 765832 on Build GRCh38 Gain WNK1 CACNA1C
esv2745368 Chr.12:757613 - 765631 on Build GRCh38 Deletion WNK1 CACNA1C
nsv4733177 Chr.12:757635 - 765619 on Build GRCh38 Deletion WNK1 CACNA1C
nsv518946 Chr.12:745165 - 852170 on Build GRCh38 Loss WNK1 CACNA1C
nsv5497476 Chr.12:344152 - 879591 on Build GRCh38 Duplication PRH1-PRR4 CACNA1C-IT3 WNK1 KDM5A PRH1 LINC02455 CCDC77 NINJ2 PRB1 TAS2R42 PRB4 B4GALNT3 DUSP16 CACNA1C TAS2R30 CACNA1C-AS4 SMIM10L1 PRH1-TAS2R14 BORCS5 DCP1B CACNA1C-IT2 LOC105369595 NINJ2-AS1 PRB3
dgv27e180 Chr.12:757004 - 766773 on Build GRCh38 Deletion WNK1 CACNA1C
esv2870457 Chr.12:756834 - 766834 on Build GRCh38 Deletion WNK1 CACNA1C

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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