Canonical Allele Identifier: CA8583745
Community Standard Title: NM_032387.5(WNK4):c.716C>G (p.Ser239Trp)
Gene: WNK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42782855C>G , CM000679.2:g.42782855C>G GRCh38
NC_000017.10:g.40934873C>G , CM000679.1:g.40934873C>G GRCh37
NC_000017.9:g.38188399C>G NCBI36
NG_016227.1:g.7225C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032387.5:c.716C>G MANE Select NP_115763.2:p.Ser239Trp
ENST00000246914.10:c.716C>G MANE Select ENSP00000246914.4:p.Ser239Trp
NM_001321299.1:c.-204C>G NP_001308228.1:n.-204C>G
NM_001321299.2:c.-204C>G NP_001308228.1:n.-204C>G
NM_032387.4:c.716C>G NP_115763.2:p.Ser239Trp
ENST00000246914.9:c.716C>G ENSP00000246914.4:p.Ser239Trp
ENST00000591448.5:c.716C>G ENSP00000467088.1:p.Ser239Trp
XM_005257595.3:c.716C>G XP_005257652.1:p.Ser239Trp
XM_005257596.2:c.716C>G XP_005257653.1:p.Ser239Trp
XM_005257597.3:c.716C>G XP_005257654.1:p.Ser239Trp
XM_006722020.2:c.716C>G XP_006722083.1:p.Ser239Trp
XM_011525132.1:c.716C>G XP_011523434.1:p.Ser239Trp
XM_011525133.1:c.716C>G XP_011523435.1:p.Ser239Trp
XM_011525134.1:c.716C>G XP_011523436.1:p.Ser239Trp
XM_011525135.1:c.716C>G XP_011523437.1:p.Ser239Trp
XM_017024962.1:c.716C>G XP_016880451.1:p.Ser239Trp