Canonical Allele Identifier: CA473533411
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 2895591
ClinVar RCV Id: RCV003636533
MyVariant Identifiers: chr11:g.22646493G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624947G>A , CM000673.2:g.22624947G>A GRCh38
NC_000011.9:g.22646493G>A , CM000673.1:g.22646493G>A GRCh37
NC_000011.8:g.22603069G>A NCBI36
NG_007425.1:g.5895C>T , LRG_527:g.5895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.864C>T MANE Select ENSP00000330875.3:p.Asp288=
ENST00000327470.4:c.864C>T ENSP00000330875.3:p.Asp288=
NM_022725.3:c.864C>T , LRG_527t1:c.864C>T NP_073562.1:p.Asp288=
NM_022725.4:c.864C>T MANE Select NP_073562.1:p.Asp288=