Linked Data
ClinVar Variation Id:
377846
dbSNP Id:
rs199525333
ExAC:
9:97888805 G / A
gnomAD v2:
9-97888805-G-A
gnomAD v3:
9-95126523-G-A
gnomAD v4:
9-95126523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95126523G>A , CM000671.2:g.95126523G>A | GRCh38 |
| NC_000009.11:g.97888805G>A , CM000671.1:g.97888805G>A | GRCh37 |
| NC_000009.10:g.96928626G>A | NCBI36 |
| NG_011707.1:g.196187C>T , LRG_497:g.196187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.411-20688G>A (AOPEP) | ||
| ENST00000289081.8:c.896+6C>T (FANCC) MANE Select | ENSP00000289081.3:n.896+6C>T | |
| ENST00000375305.6:c.896+6C>T (FANCC) | ENSP00000364454.1:n.896+6C>T | |
| ENST00000490972.7:c.896+6C>T (FANCC) | ENSP00000479931.1:n.896+6C>T | |
| ENST00000649334.1:c.1041+6C>T (FANCC) | ENSP00000497735.1:n.1041+6C>T | |
| ENST00000289081.7:c.896+6C>T (FANCC) | ENSP00000289081.3:n.896+6C>T | |
| ENST00000375305.5:c.896+6C>T (FANCC) | ENSP00000364454.1:n.896+6C>T | |
| ENST00000464627.5:n.223+6C>T (FANCC) | ||
| ENST00000464653.1:n.892+6C>T (FANCC) | ||
| ENST00000477942.5:n.251+6C>T (FANCC) | ||
| ENST00000480712.5:n.81+6C>T (FANCC) | ||
| ENST00000490972.6:c.896+6C>T (FANCC) | ENSP00000479931.1:n.896+6C>T | |
| NM_000136.2:c.896+6C>T , LRG_497t1:c.896+6C>T (FANCC) | NP_000127.2:n.896+6C>T | |
| NM_001243743.1:c.896+6C>T (FANCC) | NP_001230672.1:n.896+6C>T | |
| NM_001243744.1:c.896+6C>T (FANCC) | NP_001230673.1:n.896+6C>T | |
| XM_005251802.2:c.215+6C>T (FANCC) | XP_005251859.1:n.215+6C>T | |
| XM_006717001.1:c.731+6C>T (FANCC) | XP_006717064.1:n.731+6C>T | |
| XM_006717002.2:c.896+6C>T (FANCC) | XP_006717065.1:n.896+6C>T | |
| XM_006717004.2:c.896+6C>T (FANCC) | XP_006717067.1:n.896+6C>T | |
| XM_011518365.1:c.896+6C>T (FANCC) | XP_011516667.1:n.896+6C>T | |
| XM_011518366.1:c.896+6C>T (FANCC) | XP_011516668.1:n.896+6C>T | |
| XM_011518367.1:c.440+6C>T (FANCC) | XP_011516669.1:n.440+6C>T | |
| XM_011519121.1:c.2320-20688G>A (AOPEP) | XP_011517423.1:n.2320-20688G>A | |
| XM_005251802.3:c.215+6C>T (FANCC) | XP_005251859.1:n.215+6C>T | |
| XM_006717001.3:c.731+6C>T (FANCC) | XP_006717064.1:n.731+6C>T | |
| XM_006717002.4:c.896+6C>T (FANCC) | XP_006717065.1:n.896+6C>T | |
| XM_006717004.4:c.896+6C>T (FANCC) | XP_006717067.1:n.896+6C>T | |
| XM_011518365.3:c.896+6C>T (FANCC) | XP_011516667.1:n.896+6C>T | |
| XM_011518366.3:c.896+6C>T (FANCC) | XP_011516668.1:n.896+6C>T | |
| XM_011518367.2:c.440+6C>T (FANCC) | XP_011516669.1:n.440+6C>T | |
| XM_011519121.3:c.2320-20688G>A (AOPEP) | XP_011517423.1:n.2320-20688G>A | |
| XM_017014452.2:c.440+6C>T (FANCC) | XP_016869941.1:n.440+6C>T | |
| XM_017014453.1:c.440+6C>T (FANCC) | XP_016869942.1:n.440+6C>T | |
| XM_017014454.1:c.275+6C>T (FANCC) | XP_016869943.1:n.275+6C>T | |
| XM_024447451.1:c.896+6C>T (FANCC) | XP_024303219.1:n.896+6C>T | |
| NM_000136.3:c.896+6C>T (FANCC) MANE Select | NP_000127.2:n.896+6C>T | |
| NM_001243743.2:c.896+6C>T (FANCC) | NP_001230672.1:n.896+6C>T | |
| NM_001243744.2:c.896+6C>T (FANCC) | NP_001230673.1:n.896+6C>T |