Canonical Allele Identifier: CA356171265

Gene: WFS1

Linked Data

• ClinVar Variation Id: 523067
• ClinVar RCV Id: RCV000626276 ; RCV002509088
• dbSNP Id: rs1553876668
• MyVariant Identifiers: chr4:g.6290728C>A (hg19) ; chr4:g.6289001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289001C>A , CM000666.2:g.6289001C>A	GRCh38
NC_000004.11:g.6290728C>A , CM000666.1:g.6290728C>A	GRCh37
NC_000004.10:g.6341629C>A	NCBI36
NG_011700.1:g.24152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.330C>A	ENSP00000507852.1:p.Tyr110Ter
ENST00000683395.1:c.320C>A
ENST00000684054.1:c.330C>A	ENSP00000507120.1:p.Tyr110Ter
ENST00000684087.1:c.330C>A	ENSP00000506978.1:p.Tyr110Ter
ENST00000684700.1:c.330C>A	ENSP00000507806.1:p.Tyr110Ter
ENST00000506362.2:c.81C>A	ENSP00000424103.2:p.Tyr27Ter
ENST00000673642.1:c.129C>A	ENSP00000501242.1:p.Tyr43Ter
ENST00000673991.1:c.330C>A	ENSP00000501033.1:p.Tyr110Ter
ENST00000674051.1:c.204C>A	ENSP00000501083.1:p.Tyr68Ter
ENST00000226760.5:c.330C>A MANE Select	ENSP00000226760.1:p.Tyr110Ter
ENST00000503569.5:c.330C>A	ENSP00000423337.1:p.Tyr110Ter
ENST00000507765.1:n.515C>A
NM_001145853.1:c.330C>A	NP_001139325.1:p.Tyr110Ter
NM_006005.3:c.330C>A MANE Select	NP_005996.2:p.Tyr110Ter
XM_017008586.1:c.339C>A	XP_016864075.1:p.Tyr113Ter