Linked Data
ClinVar Variation Id:
2747496
ClinVar RCV Id:
RCV003523794
dbSNP Id:
rs544395896
ExAC:
11:22647267 G / T
gnomAD v2:
11-22647267-G-T
gnomAD v3:
11-22625721-G-T
gnomAD v4:
11-22625721-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625721G>T , CM000673.2:g.22625721G>T | GRCh38 |
| NC_000011.9:g.22647267G>T , CM000673.1:g.22647267G>T | GRCh37 |
| NC_000011.8:g.22603843G>T | NCBI36 |
| NG_007425.1:g.5121C>A , LRG_527:g.5121C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.90C>A (FANCF) MANE Select | ENSP00000330875.3:p.Thr30= | |
| ENST00000648096.1:n.213G>T (GAS2) | ||
| ENST00000327470.4:c.90C>A (FANCF) | ENSP00000330875.3:p.Thr30= | |
| ENST00000528582.5:c.-113G>T (GAS2) | ENSP00000432584.1:n.-113G>T | |
| NM_022725.3:c.90C>A , LRG_527t1:c.90C>A (FANCF) | NP_073562.1:p.Thr30= | |
| NM_022725.4:c.90C>A (FANCF) MANE Select | NP_073562.1:p.Thr30= |