Canonical Allele Identifier: CA219086625
Gene: FANCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1918096
ClinVar RCV Id: RCV002617176
dbSNP Id: rs966794897
gnomAD v4: 11-22625061-G-T
MyVariant Identifiers: chr11:g.22646607G>T (hg19) chr11:g.22625061G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625061G>T , CM000673.2:g.22625061G>T GRCh38
NC_000011.9:g.22646607G>T , CM000673.1:g.22646607G>T GRCh37
NC_000011.8:g.22603183G>T NCBI36
NG_007425.1:g.5781C>A , LRG_527:g.5781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.750C>A MANE Select ENSP00000330875.3:p.Ala250=
ENST00000327470.4:c.750C>A ENSP00000330875.3:p.Ala250=
NM_022725.3:c.750C>A , LRG_527t1:c.750C>A NP_073562.1:p.Ala250=
NM_022725.4:c.750C>A MANE Select NP_073562.1:p.Ala250=
Search 100 bp 5'
Search 100 bp 3'