Canonical Allele Identifier: CA356176227

Gene: WFS1

Linked Data

• ClinVar Variation Id: 432354
• ClinVar RCV Id: RCV000498432 ; RCV003126759
• dbSNP Id: rs1553878625
• gnomAD v4: 4-6301402-T-A
• MyVariant Identifiers: chr4:g.6303129T>A (hg19) ; chr4:g.6301402T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301402T>A , CM000666.2:g.6301402T>A	GRCh38
NC_000004.11:g.6303129T>A , CM000666.1:g.6303129T>A	GRCh37
NC_000004.10:g.6354030T>A	NCBI36
NG_011700.1:g.36553T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1643T>A	ENSP00000507852.1:p.Val548Glu
ENST00000683395.1:c.1584T>A
ENST00000684087.1:c.1607T>A	ENSP00000506978.1:p.Val536Glu
ENST00000506362.2:c.1358T>A	ENSP00000424103.2:p.Val453Glu
ENST00000673642.1:c.1266T>A	ENSP00000501242.1:p.Gly422=
ENST00000673991.1:c.1643T>A	ENSP00000501033.1:p.Val548Glu
ENST00000226760.5:c.1607T>A MANE Select	ENSP00000226760.1:p.Val536Glu
ENST00000503569.5:c.1607T>A	ENSP00000423337.1:p.Val536Glu
ENST00000507765.1:n.1792T>A
NM_001145853.1:c.1607T>A	NP_001139325.1:p.Val536Glu
NM_006005.3:c.1607T>A MANE Select	NP_005996.2:p.Val536Glu
XM_017008586.1:c.1616T>A	XP_016864075.1:p.Val539Glu