Canonical Allele Identifier: CA473533446
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1536713
ClinVar RCV Id: RCV002090392
dbSNP Id: rs1858619649
gnomAD v4: 11-22624988-G-A
MyVariant Identifiers: chr11:g.22646534G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22624988G>A , CM000673.2:g.22624988G>A GRCh38
NC_000011.9:g.22646534G>A , CM000673.1:g.22646534G>A GRCh37
NC_000011.8:g.22603110G>A NCBI36
NG_007425.1:g.5854C>T , LRG_527:g.5854C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.823C>T MANE Select ENSP00000330875.3:p.Leu275=
ENST00000327470.4:c.823C>T ENSP00000330875.3:p.Leu275=
NM_022725.3:c.823C>T , LRG_527t1:c.823C>T NP_073562.1:p.Leu275=
NM_022725.4:c.823C>T MANE Select NP_073562.1:p.Leu275=
Search 100 bp 5'
Search 100 bp 3'