Canonical Allele Identifier: CA356174237

Gene: WFS1

Linked Data

• dbSNP Id: rs750097541
• gnomAD v2: 4-6302615-T-C
• gnomAD v4: 4-6300888-T-C
• MyVariant Identifiers: chr4:g.6302615T>C (hg19) ; chr4:g.6300888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300888T>C , CM000666.2:g.6300888T>C	GRCh38
NC_000004.11:g.6302615T>C , CM000666.1:g.6302615T>C	GRCh37
NC_000004.10:g.6353516T>C	NCBI36
NG_011700.1:g.36039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1129T>C	ENSP00000507852.1:p.Phe377Leu
ENST00000683395.1:c.1070T>C
ENST00000684087.1:c.1093T>C	ENSP00000506978.1:p.Phe365Leu
ENST00000506362.2:c.844T>C	ENSP00000424103.2:p.Phe282Leu
ENST00000673642.1:c.752T>C	ENSP00000501242.1:p.Val251Ala
ENST00000673991.1:c.1129T>C	ENSP00000501033.1:p.Phe377Leu
ENST00000226760.5:c.1093T>C MANE Select	ENSP00000226760.1:p.Phe365Leu
ENST00000503569.5:c.1093T>C	ENSP00000423337.1:p.Phe365Leu
ENST00000506362.1:c.726T>C
ENST00000507765.1:n.1278T>C
NM_001145853.1:c.1093T>C	NP_001139325.1:p.Phe365Leu
NM_006005.3:c.1093T>C MANE Select	NP_005996.2:p.Phe365Leu
XM_017008586.1:c.1102T>C	XP_016864075.1:p.Phe368Leu