Canonical Allele Identifier: CA2838997

Gene: WFS1

Linked Data

• ClinVar Variation Id: 907358
• ClinVar RCV Id: RCV001157137 ; RCV001157138 ; RCV002032453 ; RCV002509121
• dbSNP Id: rs375904080
• ExAC: 4:6293707 G / A
• gnomAD v2: 4-6293707-G-A
• gnomAD v3: 4-6291980-G-A
• gnomAD v4: 4-6291980-G-A
• MyVariant Identifiers: chr4:g.6293707G>A (hg19) ; chr4:g.6291980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291980G>A , CM000666.2:g.6291980G>A	GRCh38
NC_000004.11:g.6293707G>A , CM000666.1:g.6293707G>A	GRCh37
NC_000004.10:g.6344608G>A	NCBI36
NG_011700.1:g.27131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.695G>A	ENSP00000507852.1:p.Arg232His
ENST00000683395.1:c.672G>A
ENST00000684087.1:c.695G>A	ENSP00000506978.1:p.Arg232His
ENST00000506362.2:c.446G>A	ENSP00000424103.2:p.Arg149His
ENST00000673642.1:c.494G>A	ENSP00000501242.1:p.Arg165His
ENST00000673991.1:c.695G>A	ENSP00000501033.1:p.Arg232His
ENST00000226760.5:c.695G>A MANE Select	ENSP00000226760.1:p.Arg232His
ENST00000503569.5:c.695G>A	ENSP00000423337.1:p.Arg232His
ENST00000506362.1:c.292G>A
ENST00000507765.1:n.880G>A
NM_001145853.1:c.695G>A	NP_001139325.1:p.Arg232His
NM_006005.3:c.695G>A MANE Select	NP_005996.2:p.Arg232His
XM_017008586.1:c.704G>A	XP_016864075.1:p.Arg235His