Canonical Allele Identifier: CA16044429
Gene: WNK4 HGNC NCBI
COA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 375699
ClinVar RCV Id: RCV000417205
dbSNP Id: rs193922737
MyVariant Identifiers: chr17:g.40948214A>G (hg19) chr17:g.42796196A>G (hg38)
PubMed: PMID:22073419
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42796196A>G , CM000679.2:g.42796196A>G GRCh38
NC_000017.10:g.40948214A>G , CM000679.1:g.40948214A>G GRCh37
NC_000017.9:g.38201740A>G NCBI36
NG_016227.1:g.20566A>G
NG_046771.1:g.7530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000246914.10:c.3505A>G (WNK4) MANE Select ENSP00000246914.4:p.Lys1169Glu
ENST00000246914.9:c.3505A>G (WNK4) ENSP00000246914.4:p.Lys1169Glu
ENST00000586680.1:c.*143-43T>C (COA3) ENSP00000467546.1:n.*143-43T>C
ENST00000591448.5:c.*2006A>G (WNK4) ENSP00000467088.1:n.*2006A>G
NM_032387.4:c.3505A>G (WNK4) NP_115763.2:p.Lys1169Glu
XM_005257595.3:c.3505A>G (WNK4) XP_005257652.1:p.Lys1169Glu
XM_005257596.2:c.3502A>G (WNK4) XP_005257653.1:p.Lys1168Glu
XM_005257597.3:c.3505A>G (WNK4) XP_005257654.1:p.Lys1169Glu
XM_006722020.2:c.3367A>G (WNK4) XP_006722083.1:p.Lys1123Glu
XM_006722021.1:c.2497A>G (WNK4) XP_006722084.1:p.Lys833Glu
XM_006722022.1:c.2497A>G (WNK4) XP_006722085.1:p.Lys833Glu
XM_011525132.1:c.3502A>G (WNK4) XP_011523434.1:p.Lys1168Glu
XM_011525133.1:c.3505A>G (WNK4) XP_011523435.1:p.Lys1169Glu
XM_011525134.1:c.3364A>G (WNK4) XP_011523436.1:p.Lys1122Glu
XM_011525135.1:c.3505A>G (WNK4) XP_011523437.1:p.Lys1169Glu
NM_001321299.1:c.2497A>G (WNK4) NP_001308228.1:p.Lys833Glu
XM_017024962.1:c.3505A>G (WNK4) XP_016880451.1:p.Lys1169Glu
XM_017024966.1:c.2497A>G (WNK4) XP_016880455.1:p.Lys833Glu
NM_032387.5:c.3505A>G (WNK4) MANE Select NP_115763.2:p.Lys1169Glu
NM_001321299.2:c.2497A>G (WNK4) NP_001308228.1:p.Lys833Glu
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