Canonical Allele Identifier: CA356174280

Gene: WFS1

Linked Data

• dbSNP Id: rs1730863609
• MyVariant Identifiers: chr4:g.6302634G>C (hg19) ; chr4:g.6300907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300907G>C , CM000666.2:g.6300907G>C	GRCh38
NC_000004.11:g.6302634G>C , CM000666.1:g.6302634G>C	GRCh37
NC_000004.10:g.6353535G>C	NCBI36
NG_011700.1:g.36058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1148G>C	ENSP00000507852.1:p.Trp383Ser
ENST00000683395.1:c.1089G>C
ENST00000684087.1:c.1112G>C	ENSP00000506978.1:p.Trp371Ser
ENST00000506362.2:c.863G>C	ENSP00000424103.2:p.Trp288Ser
ENST00000673642.1:c.771G>C	ENSP00000501242.1:p.Leu257=
ENST00000673991.1:c.1148G>C	ENSP00000501033.1:p.Trp383Ser
ENST00000226760.5:c.1112G>C MANE Select	ENSP00000226760.1:p.Trp371Ser
ENST00000503569.5:c.1112G>C	ENSP00000423337.1:p.Trp371Ser
ENST00000506362.1:c.745G>C
ENST00000507765.1:n.1297G>C
NM_001145853.1:c.1112G>C	NP_001139325.1:p.Trp371Ser
NM_006005.3:c.1112G>C MANE Select	NP_005996.2:p.Trp371Ser
XM_017008586.1:c.1121G>C	XP_016864075.1:p.Trp374Ser