Canonical Allele Identifier: CA16044428
Gene: WNK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 375698
ClinVar RCV Id: RCV000417204
dbSNP Id: rs193922736

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42787491G>C , CM000679.2:g.42787491G>C GRCh38
NC_000017.10:g.40939509G>C , CM000679.1:g.40939509G>C GRCh37
NC_000017.9:g.38193035G>C NCBI36
NG_016227.1:g.11861G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000246914.10:c.1690G>C MANE Select ENSP00000246914.4:p.Asp564His
ENST00000246914.9:c.1690G>C ENSP00000246914.4:p.Asp564His
ENST00000587705.5:n.370G>C
ENST00000591448.5:c.*191G>C ENSP00000467088.1:n.*191G>C
ENST00000592072.1:n.370G>C
NM_032387.4:c.1690G>C NP_115763.2:p.Asp564His
XM_005257595.3:c.1690G>C XP_005257652.1:p.Asp564His
XM_005257596.2:c.1690G>C XP_005257653.1:p.Asp564His
XM_005257597.3:c.1690G>C XP_005257654.1:p.Asp564His
XM_006722020.2:c.1690G>C XP_006722083.1:p.Asp564His
XM_006722021.1:c.682G>C XP_006722084.1:p.Asp228His
XM_006722022.1:c.682G>C XP_006722085.1:p.Asp228His
XM_011525132.1:c.1690G>C XP_011523434.1:p.Asp564His
XM_011525133.1:c.1690G>C XP_011523435.1:p.Asp564His
XM_011525134.1:c.1690G>C XP_011523436.1:p.Asp564His
XM_011525135.1:c.1690G>C XP_011523437.1:p.Asp564His
NM_001321299.1:c.682G>C NP_001308228.1:p.Asp228His
XM_017024962.1:c.1690G>C XP_016880451.1:p.Asp564His
XM_017024966.1:c.682G>C XP_016880455.1:p.Asp228His
NM_032387.5:c.1690G>C MANE Select NP_115763.2:p.Asp564His
NM_001321299.2:c.682G>C NP_001308228.1:p.Asp228His