Linked Data
ClinVar Variation Id:
6342
ClinVar RCV Id:
RCV000006714
dbSNP Id:
rs104894221
gnomAD v4:
11-22625795-G-A
PubMed:
PMID:10615118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625795G>A , CM000673.2:g.22625795G>A | GRCh38 |
| NC_000011.9:g.22647341G>A , CM000673.1:g.22647341G>A | GRCh37 |
| NC_000011.8:g.22603917G>A | NCBI36 |
| NG_007425.1:g.5047C>T , LRG_527:g.5047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.16C>T (FANCF) MANE Select | ENSP00000330875.3:p.Gln6Ter | |
| ENST00000648096.1:n.287G>A (GAS2) | ||
| ENST00000327470.4:c.16C>T (FANCF) | ENSP00000330875.3:p.Gln6Ter | |
| ENST00000528582.5:c.-39G>A (GAS2) | ENSP00000432584.1:n.-39G>A | |
| NM_022725.3:c.16C>T , LRG_527t1:c.16C>T (FANCF) | NP_073562.1:p.Gln6Ter | |
| NM_022725.4:c.16C>T (FANCF) MANE Select | NP_073562.1:p.Gln6Ter |