Linked Data
ClinVar Variation Id:
367573
ClinVar RCV Id:
RCV000389360
dbSNP Id:
rs562841213
gnomAD v2:
9-97861718-C-T
gnomAD v3:
9-95099436-C-T
gnomAD v4:
9-95099436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95099436C>T , CM000671.2:g.95099436C>T | GRCh38 |
| NC_000009.11:g.97861718C>T , CM000671.1:g.97861718C>T | GRCh37 |
| NC_000009.10:g.96901539C>T | NCBI36 |
| NG_011707.1:g.223274G>A , LRG_497:g.223274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+18656C>T (AOPEP) | ||
| ENST00000696260.1:n.4763G>A (FANCC) | ||
| ENST00000289081.8:c.*2271G>A (FANCC) MANE Select | ENSP00000289081.3:n.*2271G>A | |
| ENST00000375305.6:c.*2271G>A (FANCC) | ENSP00000364454.1:n.*2271G>A | |
| ENST00000289081.7:c.*2271G>A (FANCC) | ENSP00000289081.3:n.*2271G>A | |
| ENST00000375305.5:c.*2271G>A (FANCC) | ENSP00000364454.1:n.*2271G>A | |
| NM_000136.2:c.*2271G>A , LRG_497t1:c.*2271G>A (FANCC) | NP_000127.2:n.*2271G>A | |
| NM_001243743.1:c.*2271G>A (FANCC) | NP_001230672.1:n.*2271G>A | |
| XM_011519121.1:c.2319+18656C>T (AOPEP) | XP_011517423.1:n.2319+18656C>T | |
| XM_011519121.3:c.2319+18656C>T (AOPEP) | XP_011517423.1:n.2319+18656C>T | |
| NM_000136.3:c.*2271G>A (FANCC) MANE Select | NP_000127.2:n.*2271G>A | |
| NM_001243743.2:c.*2271G>A (FANCC) | NP_001230672.1:n.*2271G>A |