Canonical Allele Identifier: CA356174136

Gene: WFS1

Linked Data

• dbSNP Id: rs1386325785
• gnomAD v2: 4-6302565-T-C
• gnomAD v4: 4-6300838-T-C
• MyVariant Identifiers: chr4:g.6302565T>C (hg19) ; chr4:g.6300838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300838T>C , CM000666.2:g.6300838T>C	GRCh38
NC_000004.11:g.6302565T>C , CM000666.1:g.6302565T>C	GRCh37
NC_000004.10:g.6353466T>C	NCBI36
NG_011700.1:g.35989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1079T>C	ENSP00000507852.1:p.Val360Ala
ENST00000683395.1:c.1020T>C
ENST00000684087.1:c.1043T>C	ENSP00000506978.1:p.Val348Ala
ENST00000506362.2:c.794T>C	ENSP00000424103.2:p.Val265Ala
ENST00000673642.1:c.702T>C	ENSP00000501242.1:p.Gly234=
ENST00000673991.1:c.1079T>C	ENSP00000501033.1:p.Val360Ala
ENST00000226760.5:c.1043T>C MANE Select	ENSP00000226760.1:p.Val348Ala
ENST00000503569.5:c.1043T>C	ENSP00000423337.1:p.Val348Ala
ENST00000506362.1:c.676T>C
ENST00000507765.1:n.1228T>C
NM_001145853.1:c.1043T>C	NP_001139325.1:p.Val348Ala
NM_006005.3:c.1043T>C MANE Select	NP_005996.2:p.Val348Ala
XM_017008586.1:c.1052T>C	XP_016864075.1:p.Val351Ala