Canonical Allele Identifier: CA2839636

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2147442
• ClinVar RCV Id: RCV003060896
• dbSNP Id: rs368554932
• ExAC: 4:6303709 C / T
• gnomAD v2: 4-6303709-C-T
• gnomAD v4: 4-6301982-C-T
• MyVariant Identifiers: chr4:g.6303709C>T (hg19) ; chr4:g.6301982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301982C>T , CM000666.2:g.6301982C>T	GRCh38
NC_000004.11:g.6303709C>T , CM000666.1:g.6303709C>T	GRCh37
NC_000004.10:g.6354610C>T	NCBI36
NG_011700.1:g.37133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2223C>T	ENSP00000507852.1:p.Asp741=
ENST00000683395.1:c.2164C>T
ENST00000684087.1:c.2187C>T	ENSP00000506978.1:p.Asp729=
ENST00000506362.2:c.1938C>T	ENSP00000424103.2:p.Asp646=
ENST00000673642.1:c.1846C>T	ENSP00000501242.1:n.1846C>T
ENST00000673991.1:c.2223C>T	ENSP00000501033.1:p.Asp741=
ENST00000226760.5:c.2187C>T MANE Select	ENSP00000226760.1:p.Asp729=
ENST00000503569.5:c.2187C>T	ENSP00000423337.1:p.Asp729=
ENST00000507765.1:n.2372C>T
NM_001145853.1:c.2187C>T	NP_001139325.1:p.Asp729=
NM_006005.3:c.2187C>T MANE Select	NP_005996.2:p.Asp729=
XM_017008586.1:c.2196C>T	XP_016864075.1:p.Asp732=