Canonical Allele Identifier: CA380058226
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2145566
ClinVar RCV Id: RCV003071503
dbSNP Id: rs1484902312

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624970A>G , CM000673.2:g.22624970A>G GRCh38
NC_000011.9:g.22646516A>G , CM000673.1:g.22646516A>G GRCh37
NC_000011.8:g.22603092A>G NCBI36
NG_007425.1:g.5872T>C , LRG_527:g.5872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.841T>C MANE Select ENSP00000330875.3:p.Trp281Arg
ENST00000327470.4:c.841T>C ENSP00000330875.3:p.Trp281Arg
NM_022725.3:c.841T>C , LRG_527t1:c.841T>C NP_073562.1:p.Trp281Arg
NM_022725.4:c.841T>C MANE Select NP_073562.1:p.Trp281Arg