Canonical Allele Identifier: CA380058880
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625293C>A , CM000673.2:g.22625293C>A GRCh38
NC_000011.9:g.22646839C>A , CM000673.1:g.22646839C>A GRCh37
NC_000011.8:g.22603415C>A NCBI36
NG_007425.1:g.5549G>T , LRG_527:g.5549G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.518G>T MANE Select ENSP00000330875.3:p.Arg173Leu
ENST00000327470.4:c.518G>T ENSP00000330875.3:p.Arg173Leu
NM_022725.3:c.518G>T , LRG_527t1:c.518G>T NP_073562.1:p.Arg173Leu
NM_022725.4:c.518G>T MANE Select NP_073562.1:p.Arg173Leu