Canonical Allele Identifier: CA8584514

Gene: WNK4 COA3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42795634C>T , CM000679.2:g.42795634C>T	GRCh38
NC_000017.10:g.40947652C>T , CM000679.1:g.40947652C>T	GRCh37
NC_000017.9:g.38201178C>T	NCBI36
NG_016227.1:g.20004C>T
NG_046771.1:g.8092G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032387.5:c.3032C>T (WNK4) MANE Select	NP_115763.2:p.Pro1011Leu
ENST00000246914.10:c.3032C>T (WNK4) MANE Select	ENSP00000246914.4:p.Pro1011Leu
NM_001321299.1:c.2024C>T (WNK4)	NP_001308228.1:p.Pro675Leu
NM_001321299.2:c.2024C>T (WNK4)	NP_001308228.1:p.Pro675Leu
NM_032387.4:c.3032C>T (WNK4)	NP_115763.2:p.Pro1011Leu
ENST00000246914.9:c.3032C>T (WNK4)	ENSP00000246914.4:p.Pro1011Leu
ENST00000586680.1:c.*662G>A (COA3)	ENSP00000467546.1:n.*662G>A
ENST00000587745.1:c.80C>T (WNK4)	ENSP00000467312.1:p.Pro27Leu
ENST00000591448.5:c.*1533C>T (WNK4)	ENSP00000467088.1:n.*1533C>T
XM_005257595.3:c.3032C>T (WNK4)	XP_005257652.1:p.Pro1011Leu
XM_005257596.2:c.3029C>T (WNK4)	XP_005257653.1:p.Pro1010Leu
XM_005257597.3:c.3032C>T (WNK4)	XP_005257654.1:p.Pro1011Leu
XM_006722020.2:c.2894C>T (WNK4)	XP_006722083.1:p.Pro965Leu
XM_006722021.1:c.2024C>T (WNK4)	XP_006722084.1:p.Pro675Leu
XM_006722022.1:c.2024C>T (WNK4)	XP_006722085.1:p.Pro675Leu
XM_011525132.1:c.3029C>T (WNK4)	XP_011523434.1:p.Pro1010Leu
XM_011525133.1:c.3032C>T (WNK4)	XP_011523435.1:p.Pro1011Leu
XM_011525134.1:c.2891C>T (WNK4)	XP_011523436.1:p.Pro964Leu
XM_011525135.1:c.3032C>T (WNK4)	XP_011523437.1:p.Pro1011Leu
XM_017024962.1:c.3032C>T (WNK4)	XP_016880451.1:p.Pro1011Leu
XM_017024966.1:c.2024C>T (WNK4)	XP_016880455.1:p.Pro675Leu