Canonical Allele Identifier: CA5924433

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 304208
• ClinVar RCV Id: RCV000312385 ; RCV001322800 ; RCV003237815
• dbSNP Id: rs780228540
• ExAC: 11:22647256 G / A
• gnomAD v2: 11-22647256-G-A
• gnomAD v3: 11-22625710-G-A
• gnomAD v4: 11-22625710-G-A
• MyVariant Identifiers: chr11:g.22647256G>A (hg19) ; chr11:g.22625710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625710G>A , CM000673.2:g.22625710G>A	GRCh38
NC_000011.9:g.22647256G>A , CM000673.1:g.22647256G>A	GRCh37
NC_000011.8:g.22603832G>A	NCBI36
NG_007425.1:g.5132C>T , LRG_527:g.5132C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327470.6:c.101C>T (FANCF) MANE Select	ENSP00000330875.3:p.Ala34Val
ENST00000648096.1:n.202G>A (GAS2)
ENST00000327470.4:c.101C>T (FANCF)	ENSP00000330875.3:p.Ala34Val
ENST00000528582.5:c.-124G>A (GAS2)	ENSP00000432584.1:n.-124G>A
NM_022725.3:c.101C>T , LRG_527t1:c.101C>T (FANCF)	NP_073562.1:p.Ala34Val
NM_022725.4:c.101C>T (FANCF) MANE Select	NP_073562.1:p.Ala34Val