Canonical Allele Identifier: CA438368366

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301571-G-A
• MyVariant Identifiers: chr4:g.6303298G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301571G>A , CM000666.2:g.6301571G>A	GRCh38
NC_000004.11:g.6303298G>A , CM000666.1:g.6303298G>A	GRCh37
NC_000004.10:g.6354199G>A	NCBI36
NG_011700.1:g.36722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1812G>A	ENSP00000507852.1:p.Leu604=
ENST00000683395.1:c.1753G>A
ENST00000684087.1:c.1776G>A	ENSP00000506978.1:p.Leu592=
ENST00000506362.2:c.1527G>A	ENSP00000424103.2:p.Leu509=
ENST00000673642.1:c.1435G>A	ENSP00000501242.1:n.1435G>A
ENST00000673991.1:c.1812G>A	ENSP00000501033.1:p.Leu604=
ENST00000226760.5:c.1776G>A MANE Select	ENSP00000226760.1:p.Leu592=
ENST00000503569.5:c.1776G>A	ENSP00000423337.1:p.Leu592=
ENST00000507765.1:n.1961G>A
NM_001145853.1:c.1776G>A	NP_001139325.1:p.Leu592=
NM_006005.3:c.1776G>A MANE Select	NP_005996.2:p.Leu592=
XM_017008586.1:c.1785G>A	XP_016864075.1:p.Leu595=