Canonical Allele Identifier: CA356179299

Gene: WFS1

Linked Data

• dbSNP Id: rs1553879080
• MyVariant Identifiers: chr4:g.6304104T>A (hg19) ; chr4:g.6302377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302377T>A , CM000666.2:g.6302377T>A	GRCh38
NC_000004.11:g.6304104T>A , CM000666.1:g.6304104T>A	GRCh37
NC_000004.10:g.6355005T>A	NCBI36
NG_011700.1:g.37528T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2618T>A	ENSP00000507852.1:p.Val873Glu
ENST00000683395.1:c.2559T>A
ENST00000684087.1:c.2582T>A	ENSP00000506978.1:p.Val861Glu
ENST00000506362.2:c.2333T>A	ENSP00000424103.2:p.Val778Glu
ENST00000673991.1:c.2618T>A	ENSP00000501033.1:p.Val873Glu
ENST00000226760.5:c.2582T>A MANE Select	ENSP00000226760.1:p.Val861Glu
ENST00000503569.5:c.2582T>A	ENSP00000423337.1:p.Val861Glu
ENST00000507765.1:n.2767T>A
NM_001145853.1:c.2582T>A	NP_001139325.1:p.Val861Glu
NM_006005.3:c.2582T>A MANE Select	NP_005996.2:p.Val861Glu
XM_017008586.1:c.2591T>A	XP_016864075.1:p.Val864Glu