Canonical Allele Identifier: CA5924368
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs780657159
ExAC: 11:22647020 G / T
gnomAD v2: 11-22647020-G-T
gnomAD v3: 11-22625474-G-T
gnomAD v4: 11-22625474-G-T
MyVariant Identifiers: chr11:g.22647020G>T (hg19) chr11:g.22625474G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625474G>T , CM000673.2:g.22625474G>T GRCh38
NC_000011.9:g.22647020G>T , CM000673.1:g.22647020G>T GRCh37
NC_000011.8:g.22603596G>T NCBI36
NG_007425.1:g.5368C>A , LRG_527:g.5368C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.337C>A MANE Select ENSP00000330875.3:p.Gln113Lys
ENST00000327470.4:c.337C>A ENSP00000330875.3:p.Gln113Lys
NM_022725.3:c.337C>A , LRG_527t1:c.337C>A NP_073562.1:p.Gln113Lys
NM_022725.4:c.337C>A MANE Select NP_073562.1:p.Gln113Lys
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