Canonical Allele Identifier: CA179687

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166614
• ClinVar RCV Id: RCV000152702 ; RCV000864405 ; RCV001156288 ; RCV001157955 ; RCV003128231
• dbSNP Id: rs71526454
• ExAC: 4:6304189 G / A
• gnomAD v2: 4-6304189-G-A
• gnomAD v3: 4-6302462-G-A
• gnomAD v4: 4-6302462-G-A
• MyVariant Identifiers: chr4:g.6304189G>A (hg19) ; chr4:g.6302462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302462G>A , CM000666.2:g.6302462G>A	GRCh38
NC_000004.11:g.6304189G>A , CM000666.1:g.6304189G>A	GRCh37
NC_000004.10:g.6355090G>A	NCBI36
NG_011700.1:g.37613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2703G>A	ENSP00000507852.1:p.Ala901=
ENST00000683395.1:c.2644G>A
ENST00000684087.1:c.2667G>A	ENSP00000506978.1:p.Ala889=
ENST00000506362.2:c.2418G>A	ENSP00000424103.2:p.Ala806=
ENST00000673991.1:c.2703G>A	ENSP00000501033.1:p.Ala901=
ENST00000226760.5:c.2667G>A MANE Select	ENSP00000226760.1:p.Ala889=
ENST00000503569.5:c.2667G>A	ENSP00000423337.1:p.Ala889=
ENST00000507765.1:n.2852G>A
NM_001145853.1:c.2667G>A	NP_001139325.1:p.Ala889=
NM_006005.3:c.2667G>A MANE Select	NP_005996.2:p.Ala889=
XM_017008586.1:c.2676G>A	XP_016864075.1:p.Ala892=