Canonical Allele Identifier: CA5924265
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2144383
ClinVar RCV Id: RCV003053323
dbSNP Id: rs749212365

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625046G>A , CM000673.2:g.22625046G>A GRCh38
NC_000011.9:g.22646592G>A , CM000673.1:g.22646592G>A GRCh37
NC_000011.8:g.22603168G>A NCBI36
NG_007425.1:g.5796C>T , LRG_527:g.5796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.765C>T MANE Select ENSP00000330875.3:p.Leu255=
ENST00000327470.4:c.765C>T ENSP00000330875.3:p.Leu255=
NM_022725.3:c.765C>T , LRG_527t1:c.765C>T NP_073562.1:p.Leu255=
NM_022725.4:c.765C>T MANE Select NP_073562.1:p.Leu255=