Canonical Allele Identifier: CA5924286
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2723425
ClinVar RCV Id: RCV003522471
dbSNP Id: rs779948183

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625157G>A , CM000673.2:g.22625157G>A GRCh38
NC_000011.9:g.22646703G>A , CM000673.1:g.22646703G>A GRCh37
NC_000011.8:g.22603279G>A NCBI36
NG_007425.1:g.5685C>T , LRG_527:g.5685C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.654C>T MANE Select ENSP00000330875.3:p.Pro218=
ENST00000327470.4:c.654C>T ENSP00000330875.3:p.Pro218=
NM_022725.3:c.654C>T , LRG_527t1:c.654C>T NP_073562.1:p.Pro218=
NM_022725.4:c.654C>T MANE Select NP_073562.1:p.Pro218=