Canonical Allele Identifier: CA380058568
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 856950
ClinVar RCV Id: RCV001062524
dbSNP Id: rs767765820

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625141G>T , CM000673.2:g.22625141G>T GRCh38
NC_000011.9:g.22646687G>T , CM000673.1:g.22646687G>T GRCh37
NC_000011.8:g.22603263G>T NCBI36
NG_007425.1:g.5701C>A , LRG_527:g.5701C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.670C>A MANE Select ENSP00000330875.3:p.Pro224Thr
ENST00000327470.4:c.670C>A ENSP00000330875.3:p.Pro224Thr
NM_022725.3:c.670C>A , LRG_527t1:c.670C>A NP_073562.1:p.Pro224Thr
NM_022725.4:c.670C>A MANE Select NP_073562.1:p.Pro224Thr