Canonical Allele Identifier: CA473533508
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1353451639
gnomAD v2: 11-22646844-C-T
gnomAD v4: 11-22625298-C-T
COSMIC: COSM466686
MyVariant Identifiers: chr11:g.22646844C>T (hg19) chr11:g.22625298C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625298C>T , CM000673.2:g.22625298C>T GRCh38
NC_000011.9:g.22646844C>T , CM000673.1:g.22646844C>T GRCh37
NC_000011.8:g.22603420C>T NCBI36
NG_007425.1:g.5544G>A , LRG_527:g.5544G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.513G>A MANE Select ENSP00000330875.3:p.Leu171=
ENST00000327470.4:c.513G>A ENSP00000330875.3:p.Leu171=
NM_022725.3:c.513G>A , LRG_527t1:c.513G>A NP_073562.1:p.Leu171=
NM_022725.4:c.513G>A MANE Select NP_073562.1:p.Leu171=
Search 100 bp 5'
Search 100 bp 3'