Canonical Allele Identifier: CA473533536
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1337571
ClinVar RCV Id: RCV001820585
dbSNP Id: rs1858627811
MyVariant Identifiers: chr11:g.22646883C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625337C>T , CM000673.2:g.22625337C>T GRCh38
NC_000011.9:g.22646883C>T , CM000673.1:g.22646883C>T GRCh37
NC_000011.8:g.22603459C>T NCBI36
NG_007425.1:g.5505G>A , LRG_527:g.5505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.474G>A MANE Select ENSP00000330875.3:p.Gln158=
ENST00000327470.4:c.474G>A ENSP00000330875.3:p.Gln158=
NM_022725.3:c.474G>A , LRG_527t1:c.474G>A NP_073562.1:p.Gln158=
NM_022725.4:c.474G>A MANE Select NP_073562.1:p.Gln158=