Canonical Allele Identifier: CA356176406

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1315759
• ClinVar RCV Id: RCV001755421
• dbSNP Id: rs760990181
• MyVariant Identifiers: chr4:g.6303171A>T (hg19) ; chr4:g.6301444A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301444A>T , CM000666.2:g.6301444A>T	GRCh38
NC_000004.11:g.6303171A>T , CM000666.1:g.6303171A>T	GRCh37
NC_000004.10:g.6354072A>T	NCBI36
NG_011700.1:g.36595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1685A>T	ENSP00000507852.1:p.Glu562Val
ENST00000683395.1:c.1626A>T
ENST00000684087.1:c.1649A>T	ENSP00000506978.1:p.Glu550Val
ENST00000506362.2:c.1400A>T	ENSP00000424103.2:p.Glu467Val
ENST00000673642.1:c.1308A>T	ENSP00000501242.1:n.1308A>T
ENST00000673991.1:c.1685A>T	ENSP00000501033.1:p.Glu562Val
ENST00000226760.5:c.1649A>T MANE Select	ENSP00000226760.1:p.Glu550Val
ENST00000503569.5:c.1649A>T	ENSP00000423337.1:p.Glu550Val
ENST00000507765.1:n.1834A>T
NM_001145853.1:c.1649A>T	NP_001139325.1:p.Glu550Val
NM_006005.3:c.1649A>T MANE Select	NP_005996.2:p.Glu550Val
XM_017008586.1:c.1658A>T	XP_016864075.1:p.Glu553Val