Canonical Allele Identifier: CA356174760

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301157C>G , CM000666.2:g.6301157C>G	GRCh38
NC_000004.11:g.6302884C>G , CM000666.1:g.6302884C>G	GRCh37
NC_000004.10:g.6353785C>G	NCBI36
NG_011700.1:g.36308C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1362C>G MANE Select	NP_005996.2:p.Tyr454Ter
ENST00000226760.5:c.1362C>G MANE Select	ENSP00000226760.1:p.Tyr454Ter
NM_001145853.1:c.1362C>G	NP_001139325.1:p.Tyr454Ter
ENST00000503569.5:c.1362C>G	ENSP00000423337.1:p.Tyr454Ter
ENST00000506362.2:c.1113C>G	ENSP00000424103.2:p.Tyr371Ter
ENST00000507765.1:n.1547C>G
ENST00000673642.1:c.1021C>G	ENSP00000501242.1:p.His341Asp
ENST00000673991.1:c.1398C>G	ENSP00000501033.1:p.Tyr466Ter
ENST00000682275.1:c.1398C>G	ENSP00000507852.1:p.Tyr466Ter
ENST00000683395.1:c.1339C>G
ENST00000684087.1:c.1362C>G	ENSP00000506978.1:p.Tyr454Ter
XM_017008586.1:c.1371C>G	XP_016864075.1:p.Tyr457Ter