Canonical Allele Identifier: CA159584

Gene: FANCF

Linked Data

• ClinVar Variation Id: 134355
• ClinVar RCV Id: RCV000121029 ; RCV000457324
• dbSNP Id: rs150216454
• ExAC: 11:22646629 C / T
• gnomAD v2: 11-22646629-C-T
• gnomAD v3: 11-22625083-C-T
• gnomAD v4: 11-22625083-C-T
• MyVariant Identifiers: chr11:g.22646629C>T (hg19) ; chr11:g.22625083C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625083C>T , CM000673.2:g.22625083C>T	GRCh38
NC_000011.9:g.22646629C>T , CM000673.1:g.22646629C>T	GRCh37
NC_000011.8:g.22603205C>T	NCBI36
NG_007425.1:g.5759G>A , LRG_527:g.5759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.728G>A MANE Select	ENSP00000330875.3:p.Gly243Glu
ENST00000327470.4:c.728G>A	ENSP00000330875.3:p.Gly243Glu
NM_022725.3:c.728G>A , LRG_527t1:c.728G>A	NP_073562.1:p.Gly243Glu
NM_022725.4:c.728G>A MANE Select	NP_073562.1:p.Gly243Glu