Canonical Allele Identifier: CA2839292

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2293091
• ClinVar RCV Id: RCV002873039
• dbSNP Id: rs776761516
• ExAC: 4:6302796 A / C
• gnomAD v2: 4-6302796-A-C
• gnomAD v4: 4-6301069-A-C
• MyVariant Identifiers: chr4:g.6302796A>C (hg19) ; chr4:g.6301069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301069A>C , CM000666.2:g.6301069A>C	GRCh38
NC_000004.11:g.6302796A>C , CM000666.1:g.6302796A>C	GRCh37
NC_000004.10:g.6353697A>C	NCBI36
NG_011700.1:g.36220A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1310A>C	ENSP00000507852.1:p.Asp437Ala
ENST00000683395.1:c.1251A>C
ENST00000684087.1:c.1274A>C	ENSP00000506978.1:p.Asp425Ala
ENST00000506362.2:c.1025A>C	ENSP00000424103.2:p.Asp342Ala
ENST00000673642.1:c.933A>C	ENSP00000501242.1:p.Gly311=
ENST00000673991.1:c.1310A>C	ENSP00000501033.1:p.Asp437Ala
ENST00000226760.5:c.1274A>C MANE Select	ENSP00000226760.1:p.Asp425Ala
ENST00000503569.5:c.1274A>C	ENSP00000423337.1:p.Asp425Ala
ENST00000507765.1:n.1459A>C
NM_001145853.1:c.1274A>C	NP_001139325.1:p.Asp425Ala
NM_006005.3:c.1274A>C MANE Select	NP_005996.2:p.Asp425Ala
XM_017008586.1:c.1283A>C	XP_016864075.1:p.Asp428Ala