Canonical Allele Identifier: CA2839804

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302407T>G , CM000666.2:g.6302407T>G	GRCh38
NC_000004.11:g.6304134T>G , CM000666.1:g.6304134T>G	GRCh37
NC_000004.10:g.6355035T>G	NCBI36
NG_011700.1:g.37558T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2612T>G MANE Select	NP_005996.2:p.Val871Gly
ENST00000226760.5:c.2612T>G MANE Select	ENSP00000226760.1:p.Val871Gly
NM_001145853.1:c.2612T>G	NP_001139325.1:p.Val871Gly
ENST00000503569.5:c.2612T>G	ENSP00000423337.1:p.Val871Gly
ENST00000506362.2:c.2363T>G	ENSP00000424103.2:p.Val788Gly
ENST00000507765.1:n.2797T>G
ENST00000673991.1:c.2648T>G	ENSP00000501033.1:p.Val883Gly
ENST00000682275.1:c.2648T>G	ENSP00000507852.1:p.Val883Gly
ENST00000683395.1:c.2589T>G
ENST00000684087.1:c.2612T>G	ENSP00000506978.1:p.Val871Gly
XM_017008586.1:c.2621T>G	XP_016864075.1:p.Val874Gly