Canonical Allele Identifier: CA8584427
Community Standard Title: NM_032387.5(WNK4):c.2723C>T (p.Pro908Leu)
Gene: WNK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42795144C>T , CM000679.2:g.42795144C>T GRCh38
NC_000017.10:g.40947162C>T , CM000679.1:g.40947162C>T GRCh37
NC_000017.9:g.38200688C>T NCBI36
NG_016227.1:g.19514C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032387.5:c.2723C>T MANE Select NP_115763.2:p.Pro908Leu
ENST00000246914.10:c.2723C>T MANE Select ENSP00000246914.4:p.Pro908Leu
NM_001321299.1:c.1715C>T NP_001308228.1:p.Pro572Leu
NM_001321299.2:c.1715C>T NP_001308228.1:p.Pro572Leu
NM_032387.4:c.2723C>T NP_115763.2:p.Pro908Leu
ENST00000246914.9:c.2723C>T ENSP00000246914.4:p.Pro908Leu
ENST00000587745.1:c.70+476C>T ENSP00000467312.1:n.70+476C>T
ENST00000591448.5:c.*1224C>T ENSP00000467088.1:n.*1224C>T
XM_005257595.3:c.2723C>T XP_005257652.1:p.Pro908Leu
XM_005257596.2:c.2720C>T XP_005257653.1:p.Pro907Leu
XM_005257597.3:c.2723C>T XP_005257654.1:p.Pro908Leu
XM_006722020.2:c.2585C>T XP_006722083.1:p.Pro862Leu
XM_006722021.1:c.1715C>T XP_006722084.1:p.Pro572Leu
XM_006722022.1:c.1715C>T XP_006722085.1:p.Pro572Leu
XM_011525132.1:c.2720C>T XP_011523434.1:p.Pro907Leu
XM_011525133.1:c.2723C>T XP_011523435.1:p.Pro908Leu
XM_011525134.1:c.2582C>T XP_011523436.1:p.Pro861Leu
XM_011525135.1:c.2723C>T XP_011523437.1:p.Pro908Leu
XM_017024962.1:c.2723C>T XP_016880451.1:p.Pro908Leu
XM_017024966.1:c.1715C>T XP_016880455.1:p.Pro572Leu