Canonical Allele Identifier: CA219086646
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 992566
ClinVar RCV Id: RCV001281065
dbSNP Id: rs200874455

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625458C>A , CM000673.2:g.22625458C>A GRCh38
NC_000011.9:g.22647004C>A , CM000673.1:g.22647004C>A GRCh37
NC_000011.8:g.22603580C>A NCBI36
NG_007425.1:g.5384G>T , LRG_527:g.5384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.353G>T MANE Select ENSP00000330875.3:p.Gly118Val
ENST00000327470.4:c.353G>T ENSP00000330875.3:p.Gly118Val
NM_022725.3:c.353G>T , LRG_527t1:c.353G>T NP_073562.1:p.Gly118Val
NM_022725.4:c.353G>T MANE Select NP_073562.1:p.Gly118Val