Canonical Allele Identifier: CA2839209

Gene: WFS1

Linked Data

• dbSNP Id: rs758409375
• ExAC: 4:6302587 C / A
• gnomAD v2: 4-6302587-C-A
• gnomAD v4: 4-6300860-C-A
• MyVariant Identifiers: chr4:g.6302587C>A (hg19) ; chr4:g.6300860C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300860C>A , CM000666.2:g.6300860C>A	GRCh38
NC_000004.11:g.6302587C>A , CM000666.1:g.6302587C>A	GRCh37
NC_000004.10:g.6353488C>A	NCBI36
NG_011700.1:g.36011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1101C>A	ENSP00000507852.1:p.Ile367=
ENST00000683395.1:c.1042C>A
ENST00000684087.1:c.1065C>A	ENSP00000506978.1:p.Ile355=
ENST00000506362.2:c.816C>A	ENSP00000424103.2:p.Ile272=
ENST00000673642.1:c.724C>A	ENSP00000501242.1:p.Leu242Ile
ENST00000673991.1:c.1101C>A	ENSP00000501033.1:p.Ile367=
ENST00000226760.5:c.1065C>A MANE Select	ENSP00000226760.1:p.Ile355=
ENST00000503569.5:c.1065C>A	ENSP00000423337.1:p.Ile355=
ENST00000506362.1:c.698C>A
ENST00000507765.1:n.1250C>A
NM_001145853.1:c.1065C>A	NP_001139325.1:p.Ile355=
NM_006005.3:c.1065C>A MANE Select	NP_005996.2:p.Ile355=
XM_017008586.1:c.1074C>A	XP_016864075.1:p.Ile358=