Canonical Allele Identifier: CA356175794

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6303039T>G (hg19) ; chr4:g.6301312T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301312T>G , CM000666.2:g.6301312T>G	GRCh38
NC_000004.11:g.6303039T>G , CM000666.1:g.6303039T>G	GRCh37
NC_000004.10:g.6353940T>G	NCBI36
NG_011700.1:g.36463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1553T>G	ENSP00000507852.1:p.Leu518Arg
ENST00000683395.1:c.1494T>G
ENST00000684087.1:c.1517T>G	ENSP00000506978.1:p.Leu506Arg
ENST00000506362.2:c.1268T>G	ENSP00000424103.2:p.Leu423Arg
ENST00000673642.1:c.1176T>G	ENSP00000501242.1:p.Pro392=
ENST00000673991.1:c.1553T>G	ENSP00000501033.1:p.Leu518Arg
ENST00000226760.5:c.1517T>G MANE Select	ENSP00000226760.1:p.Leu506Arg
ENST00000503569.5:c.1517T>G	ENSP00000423337.1:p.Leu506Arg
ENST00000507765.1:n.1702T>G
NM_001145853.1:c.1517T>G	NP_001139325.1:p.Leu506Arg
NM_006005.3:c.1517T>G MANE Select	NP_005996.2:p.Leu506Arg
XM_017008586.1:c.1526T>G	XP_016864075.1:p.Leu509Arg