Canonical Allele Identifier: CA16613289
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 408149
ClinVar RCV Id: RCV000462532
dbSNP Id: rs1060501871
MyVariant Identifiers: chr11:g.22647005C>A (hg19) chr11:g.22625459C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625459C>A , CM000673.2:g.22625459C>A GRCh38
NC_000011.9:g.22647005C>A , CM000673.1:g.22647005C>A GRCh37
NC_000011.8:g.22603581C>A NCBI36
NG_007425.1:g.5383G>T , LRG_527:g.5383G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.352G>T MANE Select ENSP00000330875.3:p.Gly118Cys
ENST00000327470.4:c.352G>T ENSP00000330875.3:p.Gly118Cys
NM_022725.3:c.352G>T , LRG_527t1:c.352G>T NP_073562.1:p.Gly118Cys
NM_022725.4:c.352G>T MANE Select NP_073562.1:p.Gly118Cys
Search 100 bp 5'
Search 100 bp 3'