Canonical Allele Identifier: CA438368339

Gene: WFS1

Linked Data

• dbSNP Id: rs1396005597
• gnomAD v4: 4-6302291-C-T
• COSMIC: COSM383384
• MyVariant Identifiers: chr4:g.6304018C>T (hg19) ; chr4:g.6302291C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302291C>T , CM000666.2:g.6302291C>T	GRCh38
NC_000004.11:g.6304018C>T , CM000666.1:g.6304018C>T	GRCh37
NC_000004.10:g.6354919C>T	NCBI36
NG_011700.1:g.37442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2532C>T	ENSP00000507852.1:p.Arg844=
ENST00000683395.1:c.2473C>T
ENST00000684087.1:c.2496C>T	ENSP00000506978.1:p.Arg832=
ENST00000506362.2:c.2247C>T	ENSP00000424103.2:p.Arg749=
ENST00000673991.1:c.2532C>T	ENSP00000501033.1:p.Arg844=
ENST00000226760.5:c.2496C>T MANE Select	ENSP00000226760.1:p.Arg832=
ENST00000503569.5:c.2496C>T	ENSP00000423337.1:p.Arg832=
ENST00000507765.1:n.2681C>T
NM_001145853.1:c.2496C>T	NP_001139325.1:p.Arg832=
NM_006005.3:c.2496C>T MANE Select	NP_005996.2:p.Arg832=
XM_017008586.1:c.2505C>T	XP_016864075.1:p.Arg835=