Canonical Allele Identifier: CA5924296
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 252737
ClinVar RCV Id: RCV000239026 RCV000320511 RCV001093961 RCV001358441
dbSNP Id: rs146975768
ExAC: 11:22646724 C / A
gnomAD v2: 11-22646724-C-A
gnomAD v3: 11-22625178-C-A
gnomAD v4: 11-22625178-C-A
MyVariant Identifiers: chr11:g.22646724C>A (hg19) chr11:g.22625178C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625178C>A , CM000673.2:g.22625178C>A GRCh38
NC_000011.9:g.22646724C>A , CM000673.1:g.22646724C>A GRCh37
NC_000011.8:g.22603300C>A NCBI36
NG_007425.1:g.5664G>T , LRG_527:g.5664G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.633G>T MANE Select ENSP00000330875.3:p.Gln211His
ENST00000327470.4:c.633G>T ENSP00000330875.3:p.Gln211His
NM_022725.3:c.633G>T , LRG_527t1:c.633G>T NP_073562.1:p.Gln211His
NM_022725.4:c.633G>T MANE Select NP_073562.1:p.Gln211His
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Search 100 bp 3'