Canonical Allele Identifier: CA91787424

Gene: WFS1

Linked Data

• ClinVar Variation Id: 805752
• ClinVar RCV Id: RCV002509115
• dbSNP Id: rs1014892217
• gnomAD v2: 4-6279315-G-A
• gnomAD v3: 4-6277588-G-A
• gnomAD v4: 4-6277588-G-A
• MyVariant Identifiers: chr4:g.6279315G>A (hg19) ; chr4:g.6277588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277588G>A , CM000666.2:g.6277588G>A	GRCh38
NC_000004.11:g.6279315G>A , CM000666.1:g.6279315G>A	GRCh37
NC_000004.10:g.6330216G>A	NCBI36
NG_011700.1:g.12739G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.303G>A
ENST00000682059.1:c.133G>A	ENSP00000507988.1:p.Gly45Arg
ENST00000682275.1:c.133G>A	ENSP00000507852.1:p.Gly45Arg
ENST00000683395.1:c.123G>A
ENST00000684054.1:c.133G>A	ENSP00000507120.1:p.Gly45Arg
ENST00000684087.1:c.133G>A	ENSP00000506978.1:p.Gly45Arg
ENST00000684700.1:c.133G>A	ENSP00000507806.1:p.Gly45Arg
ENST00000506362.2:c.-18+7574G>A	ENSP00000424103.2:n.-18+7574G>A
ENST00000673991.1:c.133G>A	ENSP00000501033.1:p.Gly45Arg
ENST00000674051.1:c.67-60G>A	ENSP00000501083.1:n.67-60G>A
ENST00000226760.5:c.133G>A MANE Select	ENSP00000226760.1:p.Gly45Arg
ENST00000503569.5:c.133G>A	ENSP00000423337.1:p.Gly45Arg
ENST00000506588.5:n.303G>A
NM_001145853.1:c.133G>A	NP_001139325.1:p.Gly45Arg
NM_006005.3:c.133G>A MANE Select	NP_005996.2:p.Gly45Arg
XM_017008586.1:c.142G>A	XP_016864075.1:p.Gly48Arg