Canonical Allele Identifier: CA5924243

Gene: FANCF

Linked Data

• dbSNP Id: rs758608960
• ExAC: 11:22646498 A / G
• gnomAD v2: 11-22646498-A-G
• gnomAD v3: 11-22624952-A-G
• gnomAD v4: 11-22624952-A-G
• COSMIC: COSM272671
• MyVariant Identifiers: chr11:g.22646498A>G (hg19) ; chr11:g.22624952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22624952A>G , CM000673.2:g.22624952A>G	GRCh38
NC_000011.9:g.22646498A>G , CM000673.1:g.22646498A>G	GRCh37
NC_000011.8:g.22603074A>G	NCBI36
NG_007425.1:g.5890T>C , LRG_527:g.5890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.859T>C MANE Select	ENSP00000330875.3:p.Tyr287His
ENST00000327470.4:c.859T>C	ENSP00000330875.3:p.Tyr287His
NM_022725.3:c.859T>C , LRG_527t1:c.859T>C	NP_073562.1:p.Tyr287His
NM_022725.4:c.859T>C MANE Select	NP_073562.1:p.Tyr287His