Canonical Allele Identifier: CA380058249
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2188422
ClinVar RCV Id: RCV002636536
COSMIC: COSM687690

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624982G>C , CM000673.2:g.22624982G>C GRCh38
NC_000011.9:g.22646528G>C , CM000673.1:g.22646528G>C GRCh37
NC_000011.8:g.22603104G>C NCBI36
NG_007425.1:g.5860C>G , LRG_527:g.5860C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.829C>G MANE Select ENSP00000330875.3:p.Leu277Val
ENST00000327470.4:c.829C>G ENSP00000330875.3:p.Leu277Val
NM_022725.3:c.829C>G , LRG_527t1:c.829C>G NP_073562.1:p.Leu277Val
NM_022725.4:c.829C>G MANE Select NP_073562.1:p.Leu277Val