Canonical Allele Identifier: CA5924363

Gene: FANCF

Linked Data

• ClinVar Variation Id: 304204
• ClinVar RCV Id: RCV000337238 ; RCV001094016 ; RCV001820899 ; RCV003967873
• dbSNP Id: rs374572943
• ExAC: 11:22647007 G / A
• gnomAD v2: 11-22647007-G-A
• gnomAD v3: 11-22625461-G-A
• gnomAD v4: 11-22625461-G-A
• MyVariant Identifiers: chr11:g.22647007G>A (hg19) ; chr11:g.22625461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625461G>A , CM000673.2:g.22625461G>A	GRCh38
NC_000011.9:g.22647007G>A , CM000673.1:g.22647007G>A	GRCh37
NC_000011.8:g.22603583G>A	NCBI36
NG_007425.1:g.5381C>T , LRG_527:g.5381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.350C>T MANE Select	ENSP00000330875.3:p.Pro117Leu
ENST00000327470.4:c.350C>T	ENSP00000330875.3:p.Pro117Leu
NM_022725.3:c.350C>T , LRG_527t1:c.350C>T	NP_073562.1:p.Pro117Leu
NM_022725.4:c.350C>T MANE Select	NP_073562.1:p.Pro117Leu