Canonical Allele Identifier: CA356173797

Gene: WFS1

Linked Data

• dbSNP Id: rs1402207631
• gnomAD v3: 4-6300670-C-A
• gnomAD v4: 4-6300670-C-A
• MyVariant Identifiers: chr4:g.6302397C>A (hg19) ; chr4:g.6300670C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300670C>A , CM000666.2:g.6300670C>A	GRCh38
NC_000004.11:g.6302397C>A , CM000666.1:g.6302397C>A	GRCh37
NC_000004.10:g.6353298C>A	NCBI36
NG_011700.1:g.35821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.911C>A	ENSP00000507852.1:p.Pro304His
ENST00000683395.1:c.852C>A
ENST00000684087.1:c.875C>A	ENSP00000506978.1:p.Pro292His
ENST00000506362.2:c.626C>A	ENSP00000424103.2:p.Pro209His
ENST00000673642.1:c.661-127C>A	ENSP00000501242.1:n.661-127C>A
ENST00000673991.1:c.911C>A	ENSP00000501033.1:p.Pro304His
ENST00000226760.5:c.875C>A MANE Select	ENSP00000226760.1:p.Pro292His
ENST00000503569.5:c.875C>A	ENSP00000423337.1:p.Pro292His
ENST00000506362.1:c.508C>A
ENST00000507765.1:n.1060C>A
ENST00000513395.1:n.433C>A
NM_001145853.1:c.875C>A	NP_001139325.1:p.Pro292His
NM_006005.3:c.875C>A MANE Select	NP_005996.2:p.Pro292His
XM_017008586.1:c.884C>A	XP_016864075.1:p.Pro295His