Canonical Allele Identifier: CA356176243

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301404-T-G
• MyVariant Identifiers: chr4:g.6303131T>G (hg19) ; chr4:g.6301404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301404T>G , CM000666.2:g.6301404T>G	GRCh38
NC_000004.11:g.6303131T>G , CM000666.1:g.6303131T>G	GRCh37
NC_000004.10:g.6354032T>G	NCBI36
NG_011700.1:g.36555T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1645T>G	ENSP00000507852.1:p.Cys549Gly
ENST00000683395.1:c.1586T>G
ENST00000684087.1:c.1609T>G	ENSP00000506978.1:p.Cys537Gly
ENST00000506362.2:c.1360T>G	ENSP00000424103.2:p.Cys454Gly
ENST00000673642.1:c.1268T>G	ENSP00000501242.1:p.Val423Gly
ENST00000673991.1:c.1645T>G	ENSP00000501033.1:p.Cys549Gly
ENST00000226760.5:c.1609T>G MANE Select	ENSP00000226760.1:p.Cys537Gly
ENST00000503569.5:c.1609T>G	ENSP00000423337.1:p.Cys537Gly
ENST00000507765.1:n.1794T>G
NM_001145853.1:c.1609T>G	NP_001139325.1:p.Cys537Gly
NM_006005.3:c.1609T>G MANE Select	NP_005996.2:p.Cys537Gly
XM_017008586.1:c.1618T>G	XP_016864075.1:p.Cys540Gly