Canonical Allele Identifier: CA5924328

Gene: FANCF

Linked Data

• ClinVar Variation Id: 998327
• ClinVar RCV Id: RCV001294130 ; RCV003166632 ; RCV001859242
• dbSNP Id: rs952309844
• ExAC: 11:22646905 T / A
• gnomAD v2: 11-22646905-T-A
• gnomAD v3: 11-22625359-T-A
• gnomAD v4: 11-22625359-T-A
• MyVariant Identifiers: chr11:g.22646905T>A (hg19) ; chr11:g.22646905_22646919delinsAAGCCATTGAAGCGC (hg19) ; chr11:g.22625359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625359T>A , CM000673.2:g.22625359T>A	GRCh38
NC_000011.9:g.22646905T>A , CM000673.1:g.22646905T>A	GRCh37
NC_000011.8:g.22603481T>A	NCBI36
NG_007425.1:g.5483A>T , LRG_527:g.5483A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.452A>T MANE Select	ENSP00000330875.3:p.Tyr151Phe
ENST00000327470.4:c.452A>T	ENSP00000330875.3:p.Tyr151Phe
NM_022725.3:c.452A>T , LRG_527t1:c.452A>T	NP_073562.1:p.Tyr151Phe
NM_022725.4:c.452A>T MANE Select	NP_073562.1:p.Tyr151Phe