Canonical Allele Identifier: CA549708029

Gene: WFS1

Linked Data

• dbSNP Id: rs766412493
• gnomAD v2: 4-6302357-C-A
• gnomAD v4: 4-6300630-C-A
• MyVariant Identifiers: chr4:g.6302357C>A (hg19) ; chr4:g.6300630C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300630C>A , CM000666.2:g.6300630C>A	GRCh38
NC_000004.11:g.6302357C>A , CM000666.1:g.6302357C>A	GRCh37
NC_000004.10:g.6353258C>A	NCBI36
NG_011700.1:g.35781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-27C>A	ENSP00000507852.1:n.898-27C>A
ENST00000683395.1:c.839-27C>A
ENST00000684087.1:c.862-27C>A	ENSP00000506978.1:n.862-27C>A
ENST00000506362.2:c.613-27C>A	ENSP00000424103.2:n.613-27C>A
ENST00000673642.1:c.661-167C>A	ENSP00000501242.1:n.661-167C>A
ENST00000673991.1:c.898-27C>A	ENSP00000501033.1:n.898-27C>A
ENST00000226760.5:c.862-27C>A MANE Select	ENSP00000226760.1:n.862-27C>A
ENST00000503569.5:c.862-27C>A	ENSP00000423337.1:n.862-27C>A
ENST00000506362.1:c.495-27C>A
ENST00000507765.1:n.1047-27C>A
ENST00000513395.1:n.420-27C>A
NM_001145853.1:c.862-27C>A	NP_001139325.1:n.862-27C>A
NM_006005.3:c.862-27C>A MANE Select	NP_005996.2:n.862-27C>A
XM_017008586.1:c.871-27C>A	XP_016864075.1:n.871-27C>A