Canonical Allele Identifier: CA438211478

Gene: WFS1

Linked Data

• dbSNP Id: rs764627117
• gnomAD v4: 4-6300734-C-T
• MyVariant Identifiers: chr4:g.6302461C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300734C>T , CM000666.2:g.6300734C>T	GRCh38
NC_000004.11:g.6302461C>T , CM000666.1:g.6302461C>T	GRCh37
NC_000004.10:g.6353362C>T	NCBI36
NG_011700.1:g.35885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.975C>T	ENSP00000507852.1:p.His325=
ENST00000683395.1:c.916C>T
ENST00000684087.1:c.939C>T	ENSP00000506978.1:p.His313=
ENST00000506362.2:c.690C>T	ENSP00000424103.2:p.His230=
ENST00000673642.1:c.661-63C>T	ENSP00000501242.1:n.661-63C>T
ENST00000673991.1:c.975C>T	ENSP00000501033.1:p.His325=
ENST00000226760.5:c.939C>T MANE Select	ENSP00000226760.1:p.His313=
ENST00000503569.5:c.939C>T	ENSP00000423337.1:p.His313=
ENST00000506362.1:c.572C>T
ENST00000507765.1:n.1124C>T
ENST00000513395.1:n.497C>T
NM_001145853.1:c.939C>T	NP_001139325.1:p.His313=
NM_006005.3:c.939C>T MANE Select	NP_005996.2:p.His313=
XM_017008586.1:c.948C>T	XP_016864075.1:p.His316=