Canonical Allele Identifier: CA399645199
Community Standard Title: NM_032387.5(WNK4):c.506C>T (p.Pro169Leu)
Gene: WNK4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42781204C>T , CM000679.2:g.42781204C>T GRCh38
NC_000017.10:g.40933222C>T , CM000679.1:g.40933222C>T GRCh37
NC_000017.9:g.38186748C>T NCBI36
NG_016227.1:g.5574C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032387.5:c.506C>T MANE Select NP_115763.2:p.Pro169Leu
ENST00000246914.10:c.506C>T MANE Select ENSP00000246914.4:p.Pro169Leu
NM_001321299.1:c.-414C>T NP_001308228.1:n.-414C>T
NM_001321299.2:c.-414C>T NP_001308228.1:n.-414C>T
NM_032387.4:c.506C>T NP_115763.2:p.Pro169Leu
ENST00000246914.9:c.506C>T ENSP00000246914.4:p.Pro169Leu
ENST00000591448.5:c.506C>T ENSP00000467088.1:p.Pro169Leu
XM_005257595.3:c.506C>T XP_005257652.1:p.Pro169Leu
XM_005257596.2:c.506C>T XP_005257653.1:p.Pro169Leu
XM_005257597.3:c.506C>T XP_005257654.1:p.Pro169Leu
XM_006722020.2:c.506C>T XP_006722083.1:p.Pro169Leu
XM_011525132.1:c.506C>T XP_011523434.1:p.Pro169Leu
XM_011525133.1:c.506C>T XP_011523435.1:p.Pro169Leu
XM_011525134.1:c.506C>T XP_011523436.1:p.Pro169Leu
XM_011525135.1:c.506C>T XP_011523437.1:p.Pro169Leu
XM_017024962.1:c.506C>T XP_016880451.1:p.Pro169Leu