Canonical Allele Identifier: CA438368506

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6303064C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301337C>A , CM000666.2:g.6301337C>A	GRCh38
NC_000004.11:g.6303064C>A , CM000666.1:g.6303064C>A	GRCh37
NC_000004.10:g.6353965C>A	NCBI36
NG_011700.1:g.36488C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1578C>A	ENSP00000507852.1:p.Leu526=
ENST00000683395.1:c.1519C>A
ENST00000684087.1:c.1542C>A	ENSP00000506978.1:p.Leu514=
ENST00000506362.2:c.1293C>A	ENSP00000424103.2:p.Leu431=
ENST00000673642.1:c.1201C>A	ENSP00000501242.1:p.Leu401Ile
ENST00000673991.1:c.1578C>A	ENSP00000501033.1:p.Leu526=
ENST00000226760.5:c.1542C>A MANE Select	ENSP00000226760.1:p.Leu514=
ENST00000503569.5:c.1542C>A	ENSP00000423337.1:p.Leu514=
ENST00000507765.1:n.1727C>A
NM_001145853.1:c.1542C>A	NP_001139325.1:p.Leu514=
NM_006005.3:c.1542C>A MANE Select	NP_005996.2:p.Leu514=
XM_017008586.1:c.1551C>A	XP_016864075.1:p.Leu517=