Canonical Allele Identifier: CA356172341

Gene: WFS1

Linked Data

• dbSNP Id: rs1352361132
• gnomAD v2: 4-6293716-G-A
• MyVariant Identifiers: chr4:g.6293716G>A (hg19) ; chr4:g.6291989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291989G>A , CM000666.2:g.6291989G>A	GRCh38
NC_000004.11:g.6293716G>A , CM000666.1:g.6293716G>A	GRCh37
NC_000004.10:g.6344617G>A	NCBI36
NG_011700.1:g.27140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.704G>A	ENSP00000507852.1:p.Ser235Asn
ENST00000683395.1:c.681G>A
ENST00000684087.1:c.704G>A	ENSP00000506978.1:p.Ser235Asn
ENST00000506362.2:c.455G>A	ENSP00000424103.2:p.Ser152Asn
ENST00000673642.1:c.503G>A	ENSP00000501242.1:p.Ser168Asn
ENST00000673991.1:c.704G>A	ENSP00000501033.1:p.Ser235Asn
ENST00000226760.5:c.704G>A MANE Select	ENSP00000226760.1:p.Ser235Asn
ENST00000503569.5:c.704G>A	ENSP00000423337.1:p.Ser235Asn
ENST00000506362.1:c.301G>A
ENST00000507765.1:n.889G>A
NM_001145853.1:c.704G>A	NP_001139325.1:p.Ser235Asn
NM_006005.3:c.704G>A MANE Select	NP_005996.2:p.Ser235Asn
XM_017008586.1:c.713G>A	XP_016864075.1:p.Ser238Asn