Canonical Allele Identifier: CA254227
Gene: WNK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7662
ClinVar RCV Id: RCV000008101
dbSNP Id: rs137853094

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42787492A>C , CM000679.2:g.42787492A>C GRCh38
NC_000017.10:g.40939510A>C , CM000679.1:g.40939510A>C GRCh37
NC_000017.9:g.38193036A>C NCBI36
NG_016227.1:g.11862A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000246914.10:c.1691A>C MANE Select ENSP00000246914.4:p.Asp564Ala
ENST00000246914.9:c.1691A>C ENSP00000246914.4:p.Asp564Ala
ENST00000587705.5:n.371A>C
ENST00000591448.5:c.*192A>C ENSP00000467088.1:n.*192A>C
ENST00000592072.1:n.371A>C
NM_032387.4:c.1691A>C NP_115763.2:p.Asp564Ala
XM_005257595.3:c.1691A>C XP_005257652.1:p.Asp564Ala
XM_005257596.2:c.1691A>C XP_005257653.1:p.Asp564Ala
XM_005257597.3:c.1691A>C XP_005257654.1:p.Asp564Ala
XM_006722020.2:c.1691A>C XP_006722083.1:p.Asp564Ala
XM_006722021.1:c.683A>C XP_006722084.1:p.Asp228Ala
XM_006722022.1:c.683A>C XP_006722085.1:p.Asp228Ala
XM_011525132.1:c.1691A>C XP_011523434.1:p.Asp564Ala
XM_011525133.1:c.1691A>C XP_011523435.1:p.Asp564Ala
XM_011525134.1:c.1691A>C XP_011523436.1:p.Asp564Ala
XM_011525135.1:c.1691A>C XP_011523437.1:p.Asp564Ala
NM_001321299.1:c.683A>C NP_001308228.1:p.Asp228Ala
XM_017024962.1:c.1691A>C XP_016880451.1:p.Asp564Ala
XM_017024966.1:c.683A>C XP_016880455.1:p.Asp228Ala
NM_032387.5:c.1691A>C MANE Select NP_115763.2:p.Asp564Ala
NM_001321299.2:c.683A>C NP_001308228.1:p.Asp228Ala