Canonical Allele Identifier: CA356172352

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291993-C-A
• MyVariant Identifiers: chr4:g.6293720C>A (hg19) ; chr4:g.6291993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291993C>A , CM000666.2:g.6291993C>A	GRCh38
NC_000004.11:g.6293720C>A , CM000666.1:g.6293720C>A	GRCh37
NC_000004.10:g.6344621C>A	NCBI36
NG_011700.1:g.27144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.708C>A	ENSP00000507852.1:p.Ser236Arg
ENST00000683395.1:c.685C>A
ENST00000684087.1:c.708C>A	ENSP00000506978.1:p.Ser236Arg
ENST00000506362.2:c.459C>A	ENSP00000424103.2:p.Ser153Arg
ENST00000673642.1:c.507C>A	ENSP00000501242.1:p.Ser169Arg
ENST00000673991.1:c.708C>A	ENSP00000501033.1:p.Ser236Arg
ENST00000226760.5:c.708C>A MANE Select	ENSP00000226760.1:p.Ser236Arg
ENST00000503569.5:c.708C>A	ENSP00000423337.1:p.Ser236Arg
ENST00000506362.1:c.305C>A
ENST00000507765.1:n.893C>A
NM_001145853.1:c.708C>A	NP_001139325.1:p.Ser236Arg
NM_006005.3:c.708C>A MANE Select	NP_005996.2:p.Ser236Arg
XM_017008586.1:c.717C>A	XP_016864075.1:p.Ser239Arg