Canonical Allele Identifier: CA356174144

Gene: WFS1

Linked Data

• dbSNP Id: rs1730860310
• gnomAD v4: 4-6300843-T-A
• MyVariant Identifiers: chr4:g.6302570T>A (hg19) ; chr4:g.6300843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300843T>A , CM000666.2:g.6300843T>A	GRCh38
NC_000004.11:g.6302570T>A , CM000666.1:g.6302570T>A	GRCh37
NC_000004.10:g.6353471T>A	NCBI36
NG_011700.1:g.35994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1084T>A	ENSP00000507852.1:p.Phe362Ile
ENST00000683395.1:c.1025T>A
ENST00000684087.1:c.1048T>A	ENSP00000506978.1:p.Phe350Ile
ENST00000506362.2:c.799T>A	ENSP00000424103.2:p.Phe267Ile
ENST00000673642.1:c.707T>A	ENSP00000501242.1:p.Leu236His
ENST00000673991.1:c.1084T>A	ENSP00000501033.1:p.Phe362Ile
ENST00000226760.5:c.1048T>A MANE Select	ENSP00000226760.1:p.Phe350Ile
ENST00000503569.5:c.1048T>A	ENSP00000423337.1:p.Phe350Ile
ENST00000506362.1:c.681T>A
ENST00000507765.1:n.1233T>A
NM_001145853.1:c.1048T>A	NP_001139325.1:p.Phe350Ile
NM_006005.3:c.1048T>A MANE Select	NP_005996.2:p.Phe350Ile
XM_017008586.1:c.1057T>A	XP_016864075.1:p.Phe353Ile