Linked Data
ClinVar Variation Id:
12047
dbSNP Id:
rs104886457
ExAC:
9:97864024 G / A
gnomAD v2:
9-97864024-G-A
gnomAD v3:
9-95101742-G-A
gnomAD v4:
9-95101742-G-A
COSMIC:
COSM1206492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95101742G>A , CM000671.2:g.95101742G>A | GRCh38 |
| NC_000009.11:g.97864024G>A , CM000671.1:g.97864024G>A | GRCh37 |
| NC_000009.10:g.96903845G>A | NCBI36 |
| NG_011707.1:g.220968C>T , LRG_497:g.220968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+20962G>A (AOPEP) | ||
| ENST00000696260.1:n.2457C>T (FANCC) | ||
| ENST00000289081.8:c.1642C>T (FANCC) MANE Select | ENSP00000289081.3:p.Arg548Ter | |
| ENST00000375305.6:c.1642C>T (FANCC) | ENSP00000364454.1:p.Arg548Ter | |
| ENST00000649334.1:c.1787C>T (FANCC) | ENSP00000497735.1:n.1787C>T | |
| ENST00000289081.7:c.1642C>T (FANCC) | ENSP00000289081.3:p.Arg548Ter | |
| ENST00000375305.5:c.1642C>T (FANCC) | ENSP00000364454.1:p.Arg548Ter | |
| NM_000136.2:c.1642C>T , LRG_497t1:c.1642C>T (FANCC) | NP_000127.2:p.Arg548Ter | |
| NM_001243743.1:c.1642C>T (FANCC) | NP_001230672.1:p.Arg548Ter | |
| XM_005251802.2:c.961C>T (FANCC) | XP_005251859.1:p.Arg321Ter | |
| XM_006717001.1:c.1477C>T (FANCC) | XP_006717064.1:p.Arg493Ter | |
| XM_011518365.1:c.1642C>T (FANCC) | XP_011516667.1:p.Arg548Ter | |
| XM_011518367.1:c.1186C>T (FANCC) | XP_011516669.1:p.Arg396Ter | |
| XM_011519121.1:c.2319+20962G>A (AOPEP) | XP_011517423.1:n.2319+20962G>A | |
| XM_005251802.3:c.961C>T (FANCC) | XP_005251859.1:p.Arg321Ter | |
| XM_006717001.3:c.1477C>T (FANCC) | XP_006717064.1:p.Arg493Ter | |
| XM_011518365.3:c.1642C>T (FANCC) | XP_011516667.1:p.Arg548Ter | |
| XM_011518367.2:c.1186C>T (FANCC) | XP_011516669.1:p.Arg396Ter | |
| XM_011519121.3:c.2319+20962G>A (AOPEP) | XP_011517423.1:n.2319+20962G>A | |
| XM_017014452.2:c.1186C>T (FANCC) | XP_016869941.1:p.Arg396Ter | |
| XM_017014453.1:c.1186C>T (FANCC) | XP_016869942.1:p.Arg396Ter | |
| XM_017014454.1:c.1021C>T (FANCC) | XP_016869943.1:p.Arg341Ter | |
| XM_024447451.1:c.1642C>T (FANCC) | XP_024303219.1:p.Arg548Ter | |
| NM_000136.3:c.1642C>T (FANCC) MANE Select | NP_000127.2:p.Arg548Ter | |
| NM_001243743.2:c.1642C>T (FANCC) | NP_001230672.1:p.Arg548Ter |