Canonical Allele Identifier: CA356171918

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2098593
• ClinVar RCV Id: RCV003031026
• MyVariant Identifiers: chr4:g.6292966C>A (hg19) ; chr4:g.6291239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291239C>A , CM000666.2:g.6291239C>A	GRCh38
NC_000004.11:g.6292966C>A , CM000666.1:g.6292966C>A	GRCh37
NC_000004.10:g.6343867C>A	NCBI36
NG_011700.1:g.26390C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.503C>A	ENSP00000507852.1:p.Ser168Tyr
ENST00000683395.1:c.493C>A
ENST00000684087.1:c.503C>A	ENSP00000506978.1:p.Ser168Tyr
ENST00000684700.1:c.503C>A	ENSP00000507806.1:p.Ser168Tyr
ENST00000506362.2:c.254C>A	ENSP00000424103.2:p.Ser85Tyr
ENST00000673642.1:c.302C>A	ENSP00000501242.1:p.Ser101Tyr
ENST00000673991.1:c.503C>A	ENSP00000501033.1:p.Ser168Tyr
ENST00000674051.1:c.377C>A	ENSP00000501083.1:p.Ser126Tyr
ENST00000226760.5:c.503C>A MANE Select	ENSP00000226760.1:p.Ser168Tyr
ENST00000503569.5:c.503C>A	ENSP00000423337.1:p.Ser168Tyr
ENST00000506362.1:c.100C>A
ENST00000507765.1:n.688C>A
NM_001145853.1:c.503C>A	NP_001139325.1:p.Ser168Tyr
NM_006005.3:c.503C>A MANE Select	NP_005996.2:p.Ser168Tyr
XM_017008586.1:c.512C>A	XP_016864075.1:p.Ser171Tyr