Canonical Allele Identifier: CA399654412
Community Standard Title: NM_032387.5(WNK4):c.1324C>G (p.Leu442Val)
Gene: WNK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42785330C>G , CM000679.2:g.42785330C>G GRCh38
NC_000017.10:g.40937348C>G , CM000679.1:g.40937348C>G GRCh37
NC_000017.9:g.38190874C>G NCBI36
NG_016227.1:g.9700C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032387.5:c.1324C>G MANE Select NP_115763.2:p.Leu442Val
ENST00000246914.10:c.1324C>G MANE Select ENSP00000246914.4:p.Leu442Val
NM_001321299.1:c.316C>G NP_001308228.1:p.Leu106Val
NM_001321299.2:c.316C>G NP_001308228.1:p.Leu106Val
NM_032387.4:c.1324C>G NP_115763.2:p.Leu442Val
ENST00000246914.9:c.1324C>G ENSP00000246914.4:p.Leu442Val
ENST00000587705.5:n.4C>G
ENST00000591448.5:c.1235C>G ENSP00000467088.1:p.Thr412Ser
ENST00000592072.1:n.4C>G
XM_005257595.3:c.1324C>G XP_005257652.1:p.Leu442Val
XM_005257596.2:c.1324C>G XP_005257653.1:p.Leu442Val
XM_005257597.3:c.1324C>G XP_005257654.1:p.Leu442Val
XM_006722020.2:c.1324C>G XP_006722083.1:p.Leu442Val
XM_006722021.1:c.316C>G XP_006722084.1:p.Leu106Val
XM_006722022.1:c.316C>G XP_006722085.1:p.Leu106Val
XM_011525132.1:c.1324C>G XP_011523434.1:p.Leu442Val
XM_011525133.1:c.1324C>G XP_011523435.1:p.Leu442Val
XM_011525134.1:c.1324C>G XP_011523436.1:p.Leu442Val
XM_011525135.1:c.1324C>G XP_011523437.1:p.Leu442Val
XM_017024962.1:c.1324C>G XP_016880451.1:p.Leu442Val
XM_017024966.1:c.316C>G XP_016880455.1:p.Leu106Val