Canonical Allele Identifier: CA5924438

Gene: FANCF GAS2

Linked Data

• ClinVar Variation Id: 414814
• ClinVar RCV Id: RCV000462065 ; RCV003899972
• dbSNP Id: rs544395896
• ExAC: 11:22647267 G / A
• gnomAD v2: 11-22647267-G-A
• gnomAD v3: 11-22625721-G-A
• gnomAD v4: 11-22625721-G-A
• MyVariant Identifiers: chr11:g.22647267G>A (hg19) ; chr11:g.22625721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22625721G>A , CM000673.2:g.22625721G>A	GRCh38
NC_000011.9:g.22647267G>A , CM000673.1:g.22647267G>A	GRCh37
NC_000011.8:g.22603843G>A	NCBI36
NG_007425.1:g.5121C>T , LRG_527:g.5121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327470.6:c.90C>T (FANCF) MANE Select	ENSP00000330875.3:p.Thr30=
ENST00000648096.1:n.213G>A (GAS2)
ENST00000327470.4:c.90C>T (FANCF)	ENSP00000330875.3:p.Thr30=
ENST00000528582.5:c.-113G>A (GAS2)	ENSP00000432584.1:n.-113G>A
NM_022725.3:c.90C>T , LRG_527t1:c.90C>T (FANCF)	NP_073562.1:p.Thr30=
NM_022725.4:c.90C>T (FANCF) MANE Select	NP_073562.1:p.Thr30=