Canonical Allele Identifier: CA8584460

Gene: WNK4 COA3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42795314C>T , CM000679.2:g.42795314C>T	GRCh38
NC_000017.10:g.40947332C>T , CM000679.1:g.40947332C>T	GRCh37
NC_000017.9:g.38200858C>T	NCBI36
NG_016227.1:g.19684C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032387.5:c.2893C>T (WNK4) MANE Select	NP_115763.2:p.Leu965Phe
ENST00000246914.10:c.2893C>T (WNK4) MANE Select	ENSP00000246914.4:p.Leu965Phe
NM_001321299.1:c.1885C>T (WNK4)	NP_001308228.1:p.Leu629Phe
NM_001321299.2:c.1885C>T (WNK4)	NP_001308228.1:p.Leu629Phe
NM_032387.4:c.2893C>T (WNK4)	NP_115763.2:p.Leu965Phe
ENST00000246914.9:c.2893C>T (WNK4)	ENSP00000246914.4:p.Leu965Phe
ENST00000586680.1:c.*982G>A (COA3)	ENSP00000467546.1:n.*982G>A
ENST00000587745.1:c.71-311C>T (WNK4)	ENSP00000467312.1:n.71-311C>T
ENST00000591448.5:c.*1394C>T (WNK4)	ENSP00000467088.1:n.*1394C>T
XM_005257595.3:c.2893C>T (WNK4)	XP_005257652.1:p.Leu965Phe
XM_005257596.2:c.2890C>T (WNK4)	XP_005257653.1:p.Leu964Phe
XM_005257597.3:c.2893C>T (WNK4)	XP_005257654.1:p.Leu965Phe
XM_006722020.2:c.2755C>T (WNK4)	XP_006722083.1:p.Leu919Phe
XM_006722021.1:c.1885C>T (WNK4)	XP_006722084.1:p.Leu629Phe
XM_006722022.1:c.1885C>T (WNK4)	XP_006722085.1:p.Leu629Phe
XM_011525132.1:c.2890C>T (WNK4)	XP_011523434.1:p.Leu964Phe
XM_011525133.1:c.2893C>T (WNK4)	XP_011523435.1:p.Leu965Phe
XM_011525134.1:c.2752C>T (WNK4)	XP_011523436.1:p.Leu918Phe
XM_011525135.1:c.2893C>T (WNK4)	XP_011523437.1:p.Leu965Phe
XM_017024962.1:c.2893C>T (WNK4)	XP_016880451.1:p.Leu965Phe
XM_017024966.1:c.1885C>T (WNK4)	XP_016880455.1:p.Leu629Phe