Canonical Allele Identifier: CA380058892
Gene: FANCF HGNC NCBI

Linked Data

dbSNP Id: rs1307620889
gnomAD v2: 11-22646843-C-T
MyVariant Identifiers: chr11:g.22646843C>T (hg19) chr11:g.22625297C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625297C>T , CM000673.2:g.22625297C>T GRCh38
NC_000011.9:g.22646843C>T , CM000673.1:g.22646843C>T GRCh37
NC_000011.8:g.22603419C>T NCBI36
NG_007425.1:g.5545G>A , LRG_527:g.5545G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327470.6:c.514G>A MANE Select ENSP00000330875.3:p.Glu172Lys
ENST00000327470.4:c.514G>A ENSP00000330875.3:p.Glu172Lys
NM_022725.3:c.514G>A , LRG_527t1:c.514G>A NP_073562.1:p.Glu172Lys
NM_022725.4:c.514G>A MANE Select NP_073562.1:p.Glu172Lys
Search 100 bp 5'
Search 100 bp 3'