Canonical Allele Identifier: CA380058896
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.511C>G MANE Select ENSP00000330875.3:p.Leu171Val
ENST00000327470.4:c.511C>G ENSP00000330875.3:p.Leu171Val
NM_022725.3:c.511C>G , LRG_527t1:c.511C>G NP_073562.1:p.Leu171Val
NM_022725.4:c.511C>G MANE Select NP_073562.1:p.Leu171Val