Linked Data
ClinVar Variation Id:
234312
dbSNP Id:
rs779982610
ExAC:
9:97869373 G / A
gnomAD v2:
9-97869373-G-A
gnomAD v3:
9-95107091-G-A
gnomAD v4:
9-95107091-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95107091G>A , CM000671.2:g.95107091G>A | GRCh38 |
| NC_000009.11:g.97869373G>A , CM000671.1:g.97869373G>A | GRCh37 |
| NC_000009.10:g.96909194G>A | NCBI36 |
| NG_011707.1:g.215619C>T , LRG_497:g.215619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+26311G>A (AOPEP) | ||
| ENST00000696260.1:n.2323C>T (FANCC) | ||
| ENST00000289081.8:c.1508C>T (FANCC) MANE Select | ENSP00000289081.3:p.Thr503Met | |
| ENST00000375305.6:c.1508C>T (FANCC) | ENSP00000364454.1:p.Thr503Met | |
| ENST00000649334.1:c.1653C>T (FANCC) | ENSP00000497735.1:n.1653C>T | |
| ENST00000289081.7:c.1508C>T (FANCC) | ENSP00000289081.3:p.Thr503Met | |
| ENST00000375305.5:c.1508C>T (FANCC) | ENSP00000364454.1:p.Thr503Met | |
| NM_000136.2:c.1508C>T , LRG_497t1:c.1508C>T (FANCC) | NP_000127.2:p.Thr503Met | |
| NM_001243743.1:c.1508C>T (FANCC) | NP_001230672.1:p.Thr503Met | |
| XM_005251802.2:c.827C>T (FANCC) | XP_005251859.1:p.Thr276Met | |
| XM_006717001.1:c.1343C>T (FANCC) | XP_006717064.1:p.Thr448Met | |
| XM_011518365.1:c.1508C>T (FANCC) | XP_011516667.1:p.Thr503Met | |
| XM_011518367.1:c.1052C>T (FANCC) | XP_011516669.1:p.Thr351Met | |
| XM_011519121.1:c.2319+26311G>A (AOPEP) | XP_011517423.1:n.2319+26311G>A | |
| XM_005251802.3:c.827C>T (FANCC) | XP_005251859.1:p.Thr276Met | |
| XM_006717001.3:c.1343C>T (FANCC) | XP_006717064.1:p.Thr448Met | |
| XM_011518365.3:c.1508C>T (FANCC) | XP_011516667.1:p.Thr503Met | |
| XM_011518367.2:c.1052C>T (FANCC) | XP_011516669.1:p.Thr351Met | |
| XM_011519121.3:c.2319+26311G>A (AOPEP) | XP_011517423.1:n.2319+26311G>A | |
| XM_017014452.2:c.1052C>T (FANCC) | XP_016869941.1:p.Thr351Met | |
| XM_017014453.1:c.1052C>T (FANCC) | XP_016869942.1:p.Thr351Met | |
| XM_017014454.1:c.887C>T (FANCC) | XP_016869943.1:p.Thr296Met | |
| XM_024447451.1:c.1508C>T (FANCC) | XP_024303219.1:p.Thr503Met | |
| XR_001746847.1:n.509G>A | ||
| NM_000136.3:c.1508C>T (FANCC) MANE Select | NP_000127.2:p.Thr503Met | |
| NM_001243743.2:c.1508C>T (FANCC) | NP_001230672.1:p.Thr503Met |