Canonical Allele Identifier: CA356177768

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301911T>G , CM000666.2:g.6301911T>G	GRCh38
NC_000004.11:g.6303638T>G , CM000666.1:g.6303638T>G	GRCh37
NC_000004.10:g.6354539T>G	NCBI36
NG_011700.1:g.37062T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2116T>G MANE Select	NP_005996.2:p.Tyr706Asp
ENST00000226760.5:c.2116T>G MANE Select	ENSP00000226760.1:p.Tyr706Asp
NM_001145853.1:c.2116T>G	NP_001139325.1:p.Tyr706Asp
ENST00000503569.5:c.2116T>G	ENSP00000423337.1:p.Tyr706Asp
ENST00000506362.2:c.1867T>G	ENSP00000424103.2:p.Tyr623Asp
ENST00000507765.1:n.2301T>G
ENST00000673642.1:c.1775T>G	ENSP00000501242.1:n.1775T>G
ENST00000673991.1:c.2152T>G	ENSP00000501033.1:p.Tyr718Asp
ENST00000682275.1:c.2152T>G	ENSP00000507852.1:p.Tyr718Asp
ENST00000683395.1:c.2093T>G
ENST00000684087.1:c.2116T>G	ENSP00000506978.1:p.Tyr706Asp
XM_017008586.1:c.2125T>G	XP_016864075.1:p.Tyr709Asp