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- Gene Symbol
- CFHR1
- Assay Reference Genome
Location
Chr.1:196830173 on build GRCh38- Cytoband
Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 3078 |
Gene Name: | complement factor H related 1 |
Gene Aliases: |
CFHL, CFHL1, CFHL1P, CFHR1P, FHL-1, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2 |
Location: |
Chr.1:196819731-196832189 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CFHR1 | NM_001379306.1 | NP_001366235.1 | ||
| NM_001379307.1 | NP_001366236.1 | |||
| NM_001379308.1 | NP_001366237.1 | |||
| NM_001379309.1 | NP_001366238.1 | |||
| NM_001379310.1 | NP_001366239.1 | |||
| NM_001379311.1 | NP_001366240.1 | |||
| NM_001379312.1 | NP_001366241.1 | |||
| NM_002113.3 | NP_002104.2 | |||
| AK290830.1 | BAF83519.1 | |||
| BC016755.1 | AAH16755.1 | |||
| BC107771.1 | AAI07772.1 | |||
| M65292.1 | AAA35946.1 | |||
| M65293.1 | AAA35947.1 | |||
| X56209.1 | CAA39666.1 | |||
| X56210.1 | CAA39667.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2025-12-01, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3891026 | Chr.1:196743466 - 196851286 on Build GRCh38 | Gain+Loss |
 CFHR1
CFHR3
CFH
|
| dgv546n100 | Chr.1:196819844 - 196847588 on Build GRCh38 | Gain |
CFHR1
|
| dgv103n145 | Chr.1:196827261 - 196949077 on Build GRCh38 | Duplication |
CFHR2
CFHR1
CFHR4
|
| nsv548828 | Chr.1:196812480 - 196844140 on Build GRCh38 | Gain |
CFHR1
|
| dgv749n54 | Chr.1:196808587 - 196835130 on Build GRCh38 | Loss |
CFHR1
|
| dgv538n100 | Chr.1:196787999 - 196843388 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| nsv4068427 | Chr.1:196742348 - 197084331 on Build GRCh38 | Duplication |
ASPM
F13B
CFHR5
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| dgv13e55 | Chr.1:196764003 - 196932623 on Build GRCh38 | Gain |
CFHR1
CFHR4
CFHR3
|
| nsv548801 | Chr.1:196792630 - 196935320 on Build GRCh38 | Loss |
CFHR1
CFHR4
CFHR3
|
| dgv508n100 | Chr.1:196740618 - 196843388 on Build GRCh38 | Loss |
CFHR1
CFHR3
CFH
|
| esv2421560 | Chr.1:196753917 - 196846661 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv3170002 | Chr.1:196745743 - 196944667 on Build GRCh38 | Deletion |
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| nsv528460 | Chr.1:196573437 - 197477572 on Build GRCh38 | Gain |
ZBTB41
CRB1
MIR4735
ASPM
F13B
KCNT2
CFHR5
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| esv33169 | Chr.1:196769796 - 196853803 on Build GRCh38 | Gain+Loss |
CFHR1
CFHR3
|
| nsv5445003 | Chr.1:196755587 - 196846587 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv3112209 | Chr.1:196779326 - 196844127 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv1010736 | Chr.1:196801553 - 196832930 on Build GRCh38 | Gain |
CFHR1
|
| nsv4053492 | Chr.1:196821070 - 196836370 on Build GRCh38 | Deletion |
CFHR1
|
| esv5113 | Chr.1:196825198 - 196949317 on Build GRCh38 | Loss |
CFHR2
CFHR1
CFHR4
|
| dgv550n100 | Chr.1:196829423 - 196862182 on Build GRCh38 | Gain |
CFHR1
|
| dgv43e201 | Chr.1:196794400 - 196942973 on Build GRCh38 | Deletion |
CFHR1
CFHR4
CFHR3
|
| nsv498700 | Chr.1:196753075 - 196839376 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| nsv3999 | Chr.1:196748345 - 196951930 on Build GRCh38 | Deletion |
CFHR2
CFHR1
CFHR4
CFHR3
|
| nsv548831 | Chr.1:196826893 - 196852792 on Build GRCh38 | Loss |
CFHR1
|
| esv26552 | Chr.1:196741188 - 196950140 on Build GRCh38 | Gain+Loss |
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| nsv6328375 | Chr.1:196703166 - 196869786 on Build GRCh38 | Deletion |
CFHR1
CFHR3
CFH
|
| nsv548766 | Chr.1:196748507 - 196932623 on Build GRCh38 | Gain |
CFHR1
CFHR4
CFHR3
|
| esv3578358 | Chr.1:196747283 - 196944121 on Build GRCh38 | Loss |
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| dgv88e199 | Chr.1:196791346 - 196933087 on Build GRCh38 | Deletion |
CFHR1
CFHR4
CFHR3
|
| nsv5982158 | Chr.1:196817013 - 196934428 on Build GRCh38 | Deletion |
CFHR1
CFHR4
|
| dgv733n54 | Chr.1:196741937 - 196932623 on Build GRCh38 | Loss |
CFHR1
CFHR4
CFHR3
CFH
|
| nsv826008 | Chr.1:196739341 - 196859658 on Build GRCh38 | Loss |
CFHR1
CFHR3
CFH
|
| dgv536n100 | Chr.1:196787880 - 196843388 on Build GRCh38 | Gain+Loss |
CFHR1
CFHR3
|
| nsv498701 | Chr.1:196813583 - 196935541 on Build GRCh38 | Loss |
CFHR1
CFHR4
|
| dgv3n31 | Chr.1:196812967 - 196921215 on Build GRCh38 | Gain |
CFHR1
CFHR4
|
| nsv428290 | Chr.1:196621707 - 196992672 on Build GRCh38 | Gain+Loss |
CFHR5
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| nsv442555 | Chr.1:196761905 - 196832942 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| dgv532n100 | Chr.1:196770830 - 196847588 on Build GRCh38 | Gain |
CFHR1
CFHR3
|
| dgv547n100 | Chr.1:196819859 - 196847588 on Build GRCh38 | Loss |
CFHR1
|
| nsv437335 | Chr.1:196824079 - 196833377 on Build GRCh38 | Loss |
CFHR1
|
| dgv99n145 | Chr.1:196758680 - 196851756 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv1130635 | Chr.1:196799084 - 196923949 on Build GRCh38 | Deletion |
CFHR1
CFHR4
|
| nsv5879943 | Chr.1:196761730 - 196846295 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv819563 | Chr.1:196747365 - 196843172 on Build GRCh38 | Gain |
CFHR1
CFHR3
CFH
|
| dgv87e199 | Chr.1:196753215 - 196853562 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| dgv747n54 | Chr.1:196801995 - 196930960 on Build GRCh38 | Loss |
CFHR1
CFHR4
|
| dgv750n54 | Chr.1:196818614 - 196898103 on Build GRCh38 | Loss |
CFHR1
CFHR4
|
| dgv539n100 | Chr.1:196798270 - 196947657 on Build GRCh38 | Gain |
CFHR2
CFHR1
CFHR4
|
| nsv820836 | Chr.1:196747947 - 196852688 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| dgv734n54 | Chr.1:196742052 - 196853900 on Build GRCh38 | Loss |
CFHR1
CFHR3
CFH
|
| dgv492n223 | Chr.1:196794612 - 196924144 on Build GRCh38 | Duplication |
CFHR1
CFHR4
CFHR3
|
| nsv471614 | Chr.1:196700381 - 196986100 on Build GRCh38 | Gain+Loss |
CFHR5
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| nsv1159841 | Chr.1:196758720 - 196840786 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv6139398 | Chr.1:196756000 - 196840587 on Build GRCh38 | Duplication |
CFHR1
CFHR3
|
| nsv471353 | Chr.1:196819731 - 196832186 on Build GRCh38 | Gain+Loss |
CFHR1
|
| esv1001500 | Chr.1:196742223 - 196860102 on Build GRCh38 | Deletion |
CFHR1
CFHR3
CFH
|
| nsv436214 | Chr.1:196747584 - 196830482 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| dgv548n100 | Chr.1:196820420 - 196832513 on Build GRCh38 | Loss |
CFHR1
|
| nsv1159842 | Chr.1:196780731 - 196940515 on Build GRCh38 | Duplication |
CFHR1
CFHR4
CFHR3
|
| nsv469599 | Chr.1:196827346 - 196986100 on Build GRCh38 | Loss |
CFHR5
CFHR2
CFHR1
CFHR4
|
| esv3030456 | Chr.1:196806870 - 196834870 on Build GRCh38 | Deletion |
CFHR1
|
| dgv25n16 | Chr.1:196808688 - 196941840 on Build GRCh38 | Insertion |
CFHR1
CFHR4
|
| nsv1008827 | Chr.1:196772225 - 196870033 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| esv3544666 | Chr.1:196752738 - 196852870 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| dgv503n100 | Chr.1:196710325 - 196847588 on Build GRCh38 | Gain |
CFHR1
CFHR3
CFH
|
| esv3584613 | Chr.1:196740630 - 196832942 on Build GRCh38 | Loss |
CFHR1
CFHR3
CFH
|
| dgv748n54 | Chr.1:196805166 - 196964115 on Build GRCh38 | Gain |
CFHR2
CFHR1
CFHR4
|
| dgv504n100 | Chr.1:196729100 - 196884377 on Build GRCh38 | Gain |
CFHR1
CFHR3
CFH
|
| dgv744n54 | Chr.1:196787170 - 196835130 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| dgv11e55 | Chr.1:196762018 - 196932623 on Build GRCh38 | Loss |
CFHR1
CFHR4
CFHR3
|
| nsv5573900 | Chr.1:196830121 - 196830176 on Build GRCh38 | Deletion |
CFHR1
|
| nsv1068779 | Chr.1:196754369 - 196844570 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| esv2652513 | Chr.1:196760586 - 196854711 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| nsv5444857 | Chr.1:196827000 - 196832000 on Build GRCh38 | Duplication |
CFHR1
|
| nsv469810 | Chr.1:196700380 - 196847241 on Build GRCh38 | Loss |
CFHR1
CFHR3
CFH
|
| esv3588469 | Chr.1:196759747 - 196839735 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| nsv1118141 | Chr.1:196799570 - 196833670 on Build GRCh38 | Deletion |
CFHR1
|
| dgv505n100 | Chr.1:196735867 - 196832930 on Build GRCh38 | Gain |
CFHR1
CFHR3
CFH
|
| dgv42e201 | Chr.1:196743570 - 196889169 on Build GRCh38 | Deletion |
CFHR1
CFHR4
CFHR3
CFH
|
| dgv526n100 | Chr.1:196769481 - 196855458 on Build GRCh38 | Gain+Loss |
CFHR1
CFHR3
|
| dgv542n100 | Chr.1:196814484 - 196847588 on Build GRCh38 | Gain |
CFHR1
|
| dgv491n223 | Chr.1:196788077 - 196926788 on Build GRCh38 | Deletion |
CFHR1
CFHR4
CFHR3
|
| dgv746n54 | Chr.1:196794012 - 196835130 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| nsv946559 | Chr.1:196820495 - 196855363 on Build GRCh38 | Duplication |
CFHR1
|
| nsv514031 | Chr.1:196769767 - 196832567 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| dgv114n209 | Chr.1:196797760 - 196942884 on Build GRCh38 | Deletion |
CFHR1
CFHR4
|
| nsv3321483 | Chr.1:196818001 - 196865100 on Build GRCh38 | Duplication |
CFHR1
|
| esv3588478 | Chr.1:196813225 - 196934743 on Build GRCh38 | Loss |
CFHR1
CFHR4
|
| dgv98n145 | Chr.1:196748999 - 196832286 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| dgv102n145 | Chr.1:196787125 - 196926860 on Build GRCh38 | Deletion |
CFHR1
CFHR4
CFHR3
|
| dgv741n54 | Chr.1:196774797 - 196878339 on Build GRCh38 | Loss |
CFHR1
CFHR3
|
| dgv490n223 | Chr.1:196746801 - 196853068 on Build GRCh38 | Deletion |
CFHR1
CFHR3
CFH
|
| nsv5570378 | Chr.1:196757583 - 196842265 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| esv2630480 | Chr.1:196757071 - 196842783 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv3228719 | Chr.1:196807116 - 196848329 on Build GRCh38 | Insertion |
CFHR1
|
| nsv8691 | Chr.1:196741634 - 196958768 on Build GRCh38 | Gain+Loss |
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
| nsv3209410 | Chr.1:196763652 - 196867679 on Build GRCh38 | Deletion |
CFHR1
CFHR3
|
| nsv5445274 | Chr.1:196814543 - 196935693 on Build GRCh38 | Deletion |
CFHR1
CFHR4
|
| nsv6319124 | Chr.1:196710401 - 197067700 on Build GRCh38 | Duplication |
F13B
CFHR5
CFHR2
CFHR1
CFHR4
CFHR3
CFH
|
Back To TopMore Information
Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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