Linked Data
ClinVar Variation Id:
304206
dbSNP Id:
rs769740744
ExAC:
11:22647147 G / A
gnomAD v2:
11-22647147-G-A
gnomAD v3:
11-22625601-G-A
gnomAD v4:
11-22625601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625601G>A , CM000673.2:g.22625601G>A | GRCh38 |
| NC_000011.9:g.22647147G>A , CM000673.1:g.22647147G>A | GRCh37 |
| NC_000011.8:g.22603723G>A | NCBI36 |
| NG_007425.1:g.5241C>T , LRG_527:g.5241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.210C>T (FANCF) MANE Select | ENSP00000330875.3:p.Gly70= | |
| ENST00000648096.1:n.93G>A (GAS2) | ||
| ENST00000327470.4:c.210C>T (FANCF) | ENSP00000330875.3:p.Gly70= | |
| NM_022725.3:c.210C>T , LRG_527t1:c.210C>T (FANCF) | NP_073562.1:p.Gly70= | |
| NM_022725.4:c.210C>T (FANCF) MANE Select | NP_073562.1:p.Gly70= |