Canonical Allele Identifier: CA91796405

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2637822
• ClinVar RCV Id: RCV003405120 ; RCV003699103
• dbSNP Id: rs1029964172
• gnomAD v4: 4-6301425-T-A
• MyVariant Identifiers: chr4:g.6303152T>A (hg19) ; chr4:g.6301425T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301425T>A , CM000666.2:g.6301425T>A	GRCh38
NC_000004.11:g.6303152T>A , CM000666.1:g.6303152T>A	GRCh37
NC_000004.10:g.6354053T>A	NCBI36
NG_011700.1:g.36576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1666T>A	ENSP00000507852.1:p.Ser556Thr
ENST00000683395.1:c.1607T>A
ENST00000684087.1:c.1630T>A	ENSP00000506978.1:p.Ser544Thr
ENST00000506362.2:c.1381T>A	ENSP00000424103.2:p.Ser461Thr
ENST00000673642.1:c.1289T>A	ENSP00000501242.1:n.1289T>A
ENST00000673991.1:c.1666T>A	ENSP00000501033.1:p.Ser556Thr
ENST00000226760.5:c.1630T>A MANE Select	ENSP00000226760.1:p.Ser544Thr
ENST00000503569.5:c.1630T>A	ENSP00000423337.1:p.Ser544Thr
ENST00000507765.1:n.1815T>A
NM_001145853.1:c.1630T>A	NP_001139325.1:p.Ser544Thr
NM_006005.3:c.1630T>A MANE Select	NP_005996.2:p.Ser544Thr
XM_017008586.1:c.1639T>A	XP_016864075.1:p.Ser547Thr