Canonical Allele Identifier: CA380059270
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1464426
ClinVar RCV Id: RCV001975450
dbSNP Id: rs2133798077

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625486A>G , CM000673.2:g.22625486A>G GRCh38
NC_000011.9:g.22647032A>G , CM000673.1:g.22647032A>G GRCh37
NC_000011.8:g.22603608A>G NCBI36
NG_007425.1:g.5356T>C , LRG_527:g.5356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.325T>C MANE Select ENSP00000330875.3:p.Tyr109His
ENST00000327470.4:c.325T>C ENSP00000330875.3:p.Tyr109His
NM_022725.3:c.325T>C , LRG_527t1:c.325T>C NP_073562.1:p.Tyr109His
NM_022725.4:c.325T>C MANE Select NP_073562.1:p.Tyr109His