Canonical Allele Identifier: CA91796483

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2964860
• ClinVar RCV Id: RCV003828482
• dbSNP Id: rs71524359
• gnomAD v2: 4-6303235-C-T
• gnomAD v3: 4-6301508-C-T
• gnomAD v4: 4-6301508-C-T
• MyVariant Identifiers: chr4:g.6303235C>T (hg19) ; chr4:g.6301508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301508C>T , CM000666.2:g.6301508C>T	GRCh38
NC_000004.11:g.6303235C>T , CM000666.1:g.6303235C>T	GRCh37
NC_000004.10:g.6354136C>T	NCBI36
NG_011700.1:g.36659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1749C>T	ENSP00000507852.1:p.Pro583=
ENST00000683395.1:c.1690C>T
ENST00000684087.1:c.1713C>T	ENSP00000506978.1:p.Pro571=
ENST00000506362.2:c.1464C>T	ENSP00000424103.2:p.Pro488=
ENST00000673642.1:c.1372C>T	ENSP00000501242.1:n.1372C>T
ENST00000673991.1:c.1749C>T	ENSP00000501033.1:p.Pro583=
ENST00000226760.5:c.1713C>T MANE Select	ENSP00000226760.1:p.Pro571=
ENST00000503569.5:c.1713C>T	ENSP00000423337.1:p.Pro571=
ENST00000507765.1:n.1898C>T
NM_001145853.1:c.1713C>T	NP_001139325.1:p.Pro571=
NM_006005.3:c.1713C>T MANE Select	NP_005996.2:p.Pro571=
XM_017008586.1:c.1722C>T	XP_016864075.1:p.Pro574=