Canonical Allele Identifier: CA295578

Gene: WFS1

Linked Data

• ClinVar Variation Id: 137917
• ClinVar RCV Id: RCV000152687 ; RCV000487609 ; RCV001157672 ; RCV001157673 ; RCV003126508
• dbSNP Id: rs71539668
• ExAC: 4:6303574 G / A
• gnomAD v2: 4-6303574-G-A
• gnomAD v3: 4-6301847-G-A
• gnomAD v4: 4-6301847-G-A
• MyVariant Identifiers: chr4:g.6303574G>A (hg19) ; chr4:g.6301847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301847G>A , CM000666.2:g.6301847G>A	GRCh38
NC_000004.11:g.6303574G>A , CM000666.1:g.6303574G>A	GRCh37
NC_000004.10:g.6354475G>A	NCBI36
NG_011700.1:g.36998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2088G>A	ENSP00000507852.1:p.Ala696=
ENST00000683395.1:c.2029G>A
ENST00000684087.1:c.2052G>A	ENSP00000506978.1:p.Ala684=
ENST00000506362.2:c.1803G>A	ENSP00000424103.2:p.Ala601=
ENST00000673642.1:c.1711G>A	ENSP00000501242.1:n.1711G>A
ENST00000673991.1:c.2088G>A	ENSP00000501033.1:p.Ala696=
ENST00000226760.5:c.2052G>A MANE Select	ENSP00000226760.1:p.Ala684=
ENST00000503569.5:c.2052G>A	ENSP00000423337.1:p.Ala684=
ENST00000507765.1:n.2237G>A
NM_001145853.1:c.2052G>A	NP_001139325.1:p.Ala684=
NM_006005.3:c.2052G>A MANE Select	NP_005996.2:p.Ala684=
XM_017008586.1:c.2061G>A	XP_016864075.1:p.Ala687=