Canonical Allele Identifier: CA91797145

Gene: WFS1

Linked Data

• dbSNP Id: rs71532868
• gnomAD v2: 4-6303910-C-G
• gnomAD v4: 4-6302183-C-G
• MyVariant Identifiers: chr4:g.6303910C>G (hg19) ; chr4:g.6302183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302183C>G , CM000666.2:g.6302183C>G	GRCh38
NC_000004.11:g.6303910C>G , CM000666.1:g.6303910C>G	GRCh37
NC_000004.10:g.6354811C>G	NCBI36
NG_011700.1:g.37334C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2424C>G	ENSP00000507852.1:p.Asp808Glu
ENST00000683395.1:c.2365C>G
ENST00000684087.1:c.2388C>G	ENSP00000506978.1:p.Asp796Glu
ENST00000506362.2:c.2139C>G	ENSP00000424103.2:p.Asp713Glu
ENST00000673991.1:c.2424C>G	ENSP00000501033.1:p.Asp808Glu
ENST00000226760.5:c.2388C>G MANE Select	ENSP00000226760.1:p.Asp796Glu
ENST00000503569.5:c.2388C>G	ENSP00000423337.1:p.Asp796Glu
ENST00000507765.1:n.2573C>G
NM_001145853.1:c.2388C>G	NP_001139325.1:p.Asp796Glu
NM_006005.3:c.2388C>G MANE Select	NP_005996.2:p.Asp796Glu
XM_017008586.1:c.2397C>G	XP_016864075.1:p.Asp799Glu