Canonical Allele Identifier: CA16618051

Gene: WFS1

Linked Data

• ClinVar Variation Id: 420050
• ClinVar RCV Id: RCV000486801
• dbSNP Id: rs1064794257
• gnomAD v2: 4-6293068-A-G
• gnomAD v4: 4-6291341-A-G
• MyVariant Identifiers: chr4:g.6293068A>G (hg19) ; chr4:g.6291341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291341A>G , CM000666.2:g.6291341A>G	GRCh38
NC_000004.11:g.6293068A>G , CM000666.1:g.6293068A>G	GRCh37
NC_000004.10:g.6343969A>G	NCBI36
NG_011700.1:g.26492A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.605A>G	ENSP00000507852.1:p.Glu202Gly
ENST00000683395.1:c.595A>G
ENST00000684087.1:c.605A>G	ENSP00000506978.1:p.Glu202Gly
ENST00000684700.1:c.605A>G	ENSP00000507806.1:p.Glu202Gly
ENST00000506362.2:c.356A>G	ENSP00000424103.2:p.Glu119Gly
ENST00000673642.1:c.404A>G	ENSP00000501242.1:p.Glu135Gly
ENST00000673991.1:c.605A>G	ENSP00000501033.1:p.Glu202Gly
ENST00000226760.5:c.605A>G MANE Select	ENSP00000226760.1:p.Glu202Gly
ENST00000503569.5:c.605A>G	ENSP00000423337.1:p.Glu202Gly
ENST00000506362.1:c.202A>G
ENST00000507765.1:n.790A>G
NM_001145853.1:c.605A>G	NP_001139325.1:p.Glu202Gly
NM_006005.3:c.605A>G MANE Select	NP_005996.2:p.Glu202Gly
XM_017008586.1:c.614A>G	XP_016864075.1:p.Glu205Gly