Canonical Allele Identifier: CA5924369

Gene: FANCF

Linked Data

• ClinVar Variation Id: 964253
• ClinVar RCV Id: RCV001238441 ; RCV001819936 ; RCV002491774
• dbSNP Id: rs373385251
• ExAC: 11:22647025 A / G
• gnomAD v2: 11-22647025-A-G
• gnomAD v3: 11-22625479-A-G
• gnomAD v4: 11-22625479-A-G
• MyVariant Identifiers: chr11:g.22647025A>G (hg19) ; chr11:g.22625479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625479A>G , CM000673.2:g.22625479A>G	GRCh38
NC_000011.9:g.22647025A>G , CM000673.1:g.22647025A>G	GRCh37
NC_000011.8:g.22603601A>G	NCBI36
NG_007425.1:g.5363T>C , LRG_527:g.5363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.332T>C MANE Select	ENSP00000330875.3:p.Leu111Pro
ENST00000327470.4:c.332T>C	ENSP00000330875.3:p.Leu111Pro
NM_022725.3:c.332T>C , LRG_527t1:c.332T>C	NP_073562.1:p.Leu111Pro
NM_022725.4:c.332T>C MANE Select	NP_073562.1:p.Leu111Pro