Canonical Allele Identifier: CA356173929

Gene: WFS1

Linked Data

• dbSNP Id: rs1279067483
• gnomAD v3: 4-6300736-G-A
• gnomAD v4: 4-6300736-G-A
• MyVariant Identifiers: chr4:g.6302463G>A (hg19) ; chr4:g.6300736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300736G>A , CM000666.2:g.6300736G>A	GRCh38
NC_000004.11:g.6302463G>A , CM000666.1:g.6302463G>A	GRCh37
NC_000004.10:g.6353364G>A	NCBI36
NG_011700.1:g.35887G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.977G>A	ENSP00000507852.1:p.Trp326Ter
ENST00000683395.1:c.918G>A
ENST00000684087.1:c.941G>A	ENSP00000506978.1:p.Trp314Ter
ENST00000506362.2:c.692G>A	ENSP00000424103.2:p.Trp231Ter
ENST00000673642.1:c.661-61G>A	ENSP00000501242.1:n.661-61G>A
ENST00000673991.1:c.977G>A	ENSP00000501033.1:p.Trp326Ter
ENST00000226760.5:c.941G>A MANE Select	ENSP00000226760.1:p.Trp314Ter
ENST00000503569.5:c.941G>A	ENSP00000423337.1:p.Trp314Ter
ENST00000506362.1:c.574G>A
ENST00000507765.1:n.1126G>A
ENST00000513395.1:n.499G>A
NM_001145853.1:c.941G>A	NP_001139325.1:p.Trp314Ter
NM_006005.3:c.941G>A MANE Select	NP_005996.2:p.Trp314Ter
XM_017008586.1:c.950G>A	XP_016864075.1:p.Trp317Ter