Canonical Allele Identifier: CA356177039

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301683-A-T
• MyVariant Identifiers: chr4:g.6303410A>T (hg19) ; chr4:g.6301683A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301683A>T , CM000666.2:g.6301683A>T	GRCh38
NC_000004.11:g.6303410A>T , CM000666.1:g.6303410A>T	GRCh37
NC_000004.10:g.6354311A>T	NCBI36
NG_011700.1:g.36834A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1924A>T	ENSP00000507852.1:p.Ser642Cys
ENST00000683395.1:c.1865A>T
ENST00000684087.1:c.1888A>T	ENSP00000506978.1:p.Ser630Cys
ENST00000506362.2:c.1639A>T	ENSP00000424103.2:p.Ser547Cys
ENST00000673642.1:c.1547A>T	ENSP00000501242.1:n.1547A>T
ENST00000673991.1:c.1924A>T	ENSP00000501033.1:p.Ser642Cys
ENST00000226760.5:c.1888A>T MANE Select	ENSP00000226760.1:p.Ser630Cys
ENST00000503569.5:c.1888A>T	ENSP00000423337.1:p.Ser630Cys
ENST00000507765.1:n.2073A>T
NM_001145853.1:c.1888A>T	NP_001139325.1:p.Ser630Cys
NM_006005.3:c.1888A>T MANE Select	NP_005996.2:p.Ser630Cys
XM_017008586.1:c.1897A>T	XP_016864075.1:p.Ser633Cys