Canonical Allele Identifier: CA8584404
Community Standard Title: NM_032387.5(WNK4):c.2588T>G (p.Leu863Arg)
Gene: WNK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42795009T>G , CM000679.2:g.42795009T>G GRCh38
NC_000017.10:g.40947027T>G , CM000679.1:g.40947027T>G GRCh37
NC_000017.9:g.38200553T>G NCBI36
NG_016227.1:g.19379T>G

Transcript Alleles

HGVS Amino-acid Change
NM_032387.5:c.2588T>G MANE Select NP_115763.2:p.Leu863Arg
ENST00000246914.10:c.2588T>G MANE Select ENSP00000246914.4:p.Leu863Arg
NM_001321299.1:c.1580T>G NP_001308228.1:p.Leu527Arg
NM_001321299.2:c.1580T>G NP_001308228.1:p.Leu527Arg
NM_032387.4:c.2588T>G NP_115763.2:p.Leu863Arg
ENST00000246914.9:c.2588T>G ENSP00000246914.4:p.Leu863Arg
ENST00000587745.1:c.70+341T>G ENSP00000467312.1:n.70+341T>G
ENST00000591448.5:c.*1089T>G ENSP00000467088.1:n.*1089T>G
XM_005257595.3:c.2588T>G XP_005257652.1:p.Leu863Arg
XM_005257596.2:c.2585T>G XP_005257653.1:p.Leu862Arg
XM_005257597.3:c.2588T>G XP_005257654.1:p.Leu863Arg
XM_006722020.2:c.2450T>G XP_006722083.1:p.Leu817Arg
XM_006722021.1:c.1580T>G XP_006722084.1:p.Leu527Arg
XM_006722022.1:c.1580T>G XP_006722085.1:p.Leu527Arg
XM_011525132.1:c.2585T>G XP_011523434.1:p.Leu862Arg
XM_011525133.1:c.2588T>G XP_011523435.1:p.Leu863Arg
XM_011525134.1:c.2447T>G XP_011523436.1:p.Leu816Arg
XM_011525135.1:c.2588T>G XP_011523437.1:p.Leu863Arg
XM_017024962.1:c.2588T>G XP_016880451.1:p.Leu863Arg
XM_017024966.1:c.1580T>G XP_016880455.1:p.Leu527Arg