Canonical Allele Identifier: CA179683

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166612
• ClinVar RCV Id: RCV000152700 ; RCV000726782 ; RCV003147360 ; RCV002498721
• dbSNP Id: rs367547063
• ExAC: 4:6303992 G / A
• gnomAD v2: 4-6303992-G-A
• gnomAD v3: 4-6302265-G-A
• gnomAD v4: 4-6302265-G-A
• MyVariant Identifiers: chr4:g.6303992G>A (hg19) ; chr4:g.6302265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302265G>A , CM000666.2:g.6302265G>A	GRCh38
NC_000004.11:g.6303992G>A , CM000666.1:g.6303992G>A	GRCh37
NC_000004.10:g.6354893G>A	NCBI36
NG_011700.1:g.37416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2506G>A	ENSP00000507852.1:p.Glu836Lys
ENST00000683395.1:c.2447G>A
ENST00000684087.1:c.2470G>A	ENSP00000506978.1:p.Glu824Lys
ENST00000506362.2:c.2221G>A	ENSP00000424103.2:p.Glu741Lys
ENST00000673991.1:c.2506G>A	ENSP00000501033.1:p.Glu836Lys
ENST00000226760.5:c.2470G>A MANE Select	ENSP00000226760.1:p.Glu824Lys
ENST00000503569.5:c.2470G>A	ENSP00000423337.1:p.Glu824Lys
ENST00000507765.1:n.2655G>A
NM_001145853.1:c.2470G>A	NP_001139325.1:p.Glu824Lys
NM_006005.3:c.2470G>A MANE Select	NP_005996.2:p.Glu824Lys
XM_017008586.1:c.2479G>A	XP_016864075.1:p.Glu827Lys