Canonical Allele Identifier: CA380058897
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625300G>T , CM000673.2:g.22625300G>T GRCh38
NC_000011.9:g.22646846G>T , CM000673.1:g.22646846G>T GRCh37
NC_000011.8:g.22603422G>T NCBI36
NG_007425.1:g.5542C>A , LRG_527:g.5542C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.511C>A MANE Select ENSP00000330875.3:p.Leu171Met
ENST00000327470.4:c.511C>A ENSP00000330875.3:p.Leu171Met
NM_022725.3:c.511C>A , LRG_527t1:c.511C>A NP_073562.1:p.Leu171Met
NM_022725.4:c.511C>A MANE Select NP_073562.1:p.Leu171Met