Canonical Allele Identifier: CA438367946

Gene: WFS1

Linked Data

• dbSNP Id: rs1560418228
• gnomAD v4: 4-6300878-C-T
• MyVariant Identifiers: chr4:g.6302605C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300878C>T , CM000666.2:g.6300878C>T	GRCh38
NC_000004.11:g.6302605C>T , CM000666.1:g.6302605C>T	GRCh37
NC_000004.10:g.6353506C>T	NCBI36
NG_011700.1:g.36029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1119C>T	ENSP00000507852.1:p.Thr373=
ENST00000683395.1:c.1060C>T
ENST00000684087.1:c.1083C>T	ENSP00000506978.1:p.Thr361=
ENST00000506362.2:c.834C>T	ENSP00000424103.2:p.Thr278=
ENST00000673642.1:c.742C>T	ENSP00000501242.1:p.Pro248Ser
ENST00000673991.1:c.1119C>T	ENSP00000501033.1:p.Thr373=
ENST00000226760.5:c.1083C>T MANE Select	ENSP00000226760.1:p.Thr361=
ENST00000503569.5:c.1083C>T	ENSP00000423337.1:p.Thr361=
ENST00000506362.1:c.716C>T
ENST00000507765.1:n.1268C>T
NM_001145853.1:c.1083C>T	NP_001139325.1:p.Thr361=
NM_006005.3:c.1083C>T MANE Select	NP_005996.2:p.Thr361=
XM_017008586.1:c.1092C>T	XP_016864075.1:p.Thr364=