Canonical Allele Identifier: CA323935

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215354
• ClinVar RCV Id: RCV000199397 ; RCV001853207 ; RCV002509293
• dbSNP Id: rs772392224
• ExAC: 4:6302537 G / A
• gnomAD v2: 4-6302537-G-A
• gnomAD v3: 4-6300810-G-A
• gnomAD v4: 4-6300810-G-A
• COSMIC: COSM1056543
• MyVariant Identifiers: chr4:g.6302537G>A (hg19) ; chr4:g.6300810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300810G>A , CM000666.2:g.6300810G>A	GRCh38
NC_000004.11:g.6302537G>A , CM000666.1:g.6302537G>A	GRCh37
NC_000004.10:g.6353438G>A	NCBI36
NG_011700.1:g.35961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1051G>A	ENSP00000507852.1:p.Asp351Asn
ENST00000683395.1:c.992G>A
ENST00000684087.1:c.1015G>A	ENSP00000506978.1:p.Asp339Asn
ENST00000506362.2:c.766G>A	ENSP00000424103.2:p.Asp256Asn
ENST00000673642.1:c.674G>A	ENSP00000501242.1:p.Arg225Gln
ENST00000673991.1:c.1051G>A	ENSP00000501033.1:p.Asp351Asn
ENST00000226760.5:c.1015G>A MANE Select	ENSP00000226760.1:p.Asp339Asn
ENST00000503569.5:c.1015G>A	ENSP00000423337.1:p.Asp339Asn
ENST00000506362.1:c.648G>A
ENST00000507765.1:n.1200G>A
NM_001145853.1:c.1015G>A	NP_001139325.1:p.Asp339Asn
NM_006005.3:c.1015G>A MANE Select	NP_005996.2:p.Asp339Asn
XM_017008586.1:c.1024G>A	XP_016864075.1:p.Asp342Asn