Linked Data
ClinVar Variation Id:
367572
ClinVar RCV Id:
RCV000348933
dbSNP Id:
rs561975553
gnomAD v2:
9-97861693-C-T
gnomAD v3:
9-95099411-C-T
gnomAD v4:
9-95099411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95099411C>T , CM000671.2:g.95099411C>T | GRCh38 |
| NC_000009.11:g.97861693C>T , CM000671.1:g.97861693C>T | GRCh37 |
| NC_000009.10:g.96901514C>T | NCBI36 |
| NG_011707.1:g.223299G>A , LRG_497:g.223299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+18631C>T (AOPEP) | ||
| ENST00000696260.1:n.4788G>A (FANCC) | ||
| ENST00000289081.8:c.*2296G>A (FANCC) MANE Select | ENSP00000289081.3:n.*2296G>A | |
| ENST00000375305.6:c.*2296G>A (FANCC) | ENSP00000364454.1:n.*2296G>A | |
| ENST00000289081.7:c.*2296G>A (FANCC) | ENSP00000289081.3:n.*2296G>A | |
| ENST00000375305.5:c.*2296G>A (FANCC) | ENSP00000364454.1:n.*2296G>A | |
| NM_000136.2:c.*2296G>A , LRG_497t1:c.*2296G>A (FANCC) | NP_000127.2:n.*2296G>A | |
| NM_001243743.1:c.*2296G>A (FANCC) | NP_001230672.1:n.*2296G>A | |
| XM_011519121.1:c.2319+18631C>T (AOPEP) | XP_011517423.1:n.2319+18631C>T | |
| XM_011519121.3:c.2319+18631C>T (AOPEP) | XP_011517423.1:n.2319+18631C>T | |
| NM_000136.3:c.*2296G>A (FANCC) MANE Select | NP_000127.2:n.*2296G>A | |
| NM_001243743.2:c.*2296G>A (FANCC) | NP_001230672.1:n.*2296G>A |