Linked Data
ClinVar Variation Id:
127543
dbSNP Id:
rs182879858
ExAC:
9:97912349 G / A
gnomAD v2:
9-97912349-G-A
gnomAD v3:
9-95150067-G-A
gnomAD v4:
9-95150067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95150067G>A , CM000671.2:g.95150067G>A | GRCh38 |
| NC_000009.11:g.97912349G>A , CM000671.1:g.97912349G>A | GRCh37 |
| NC_000009.10:g.96952170G>A | NCBI36 |
| NG_011707.1:g.172643C>T , LRG_497:g.172643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.3267G>A (AOPEP) | ||
| ENST00000696261.1:n.933C>T (FANCC) | ||
| ENST00000289081.8:c.542C>T (FANCC) MANE Select | ENSP00000289081.3:p.Ala181Val | |
| ENST00000375305.6:c.542C>T (FANCC) | ENSP00000364454.1:p.Ala181Val | |
| ENST00000490972.7:c.542C>T (FANCC) | ENSP00000479931.1:p.Ala181Val | |
| ENST00000636777.1:n.600C>T (FANCC) | ||
| ENST00000649334.1:c.687C>T (FANCC) | ENSP00000497735.1:n.687C>T | |
| ENST00000649701.1:n.257C>T (FANCC) | ||
| ENST00000289081.7:c.542C>T (FANCC) | ENSP00000289081.3:p.Ala181Val | |
| ENST00000375305.5:c.542C>T (FANCC) | ENSP00000364454.1:p.Ala181Val | |
| ENST00000490972.6:c.542C>T (FANCC) | ENSP00000479931.1:p.Ala181Val | |
| NM_000136.2:c.542C>T , LRG_497t1:c.542C>T (FANCC) | NP_000127.2:p.Ala181Val | |
| NM_001243743.1:c.542C>T (FANCC) | NP_001230672.1:p.Ala181Val | |
| NM_001243744.1:c.542C>T (FANCC) | NP_001230673.1:p.Ala181Val | |
| XM_006717001.1:c.522-14565C>T (FANCC) | XP_006717064.1:n.522-14565C>T | |
| XM_006717002.2:c.542C>T (FANCC) | XP_006717065.1:p.Ala181Val | |
| XM_006717004.2:c.542C>T (FANCC) | XP_006717067.1:p.Ala181Val | |
| XM_011518365.1:c.542C>T (FANCC) | XP_011516667.1:p.Ala181Val | |
| XM_011518366.1:c.542C>T (FANCC) | XP_011516668.1:p.Ala181Val | |
| XM_011518367.1:c.86C>T (FANCC) | XP_011516669.1:p.Ala29Val | |
| XM_006717001.3:c.522-14565C>T (FANCC) | XP_006717064.1:n.522-14565C>T | |
| XM_006717002.4:c.542C>T (FANCC) | XP_006717065.1:p.Ala181Val | |
| XM_006717004.4:c.542C>T (FANCC) | XP_006717067.1:p.Ala181Val | |
| XM_011518365.3:c.542C>T (FANCC) | XP_011516667.1:p.Ala181Val | |
| XM_011518366.3:c.542C>T (FANCC) | XP_011516668.1:p.Ala181Val | |
| XM_011518367.2:c.86C>T (FANCC) | XP_011516669.1:p.Ala29Val | |
| XM_017014452.2:c.86C>T (FANCC) | XP_016869941.1:p.Ala29Val | |
| XM_017014453.1:c.86C>T (FANCC) | XP_016869942.1:p.Ala29Val | |
| XM_017014454.1:c.66-14565C>T (FANCC) | XP_016869943.1:n.66-14565C>T | |
| XM_024447451.1:c.542C>T (FANCC) | XP_024303219.1:p.Ala181Val | |
| NM_000136.3:c.542C>T (FANCC) MANE Select | NP_000127.2:p.Ala181Val | |
| NM_001243743.2:c.542C>T (FANCC) | NP_001230672.1:p.Ala181Val | |
| NM_001243744.2:c.542C>T (FANCC) | NP_001230673.1:p.Ala181Val |