Canonical Allele Identifier: CA8584041

Gene: WNK4

Linked Data

• ClinVar Variation Id: 323323
• ClinVar RCV Id: RCV000366794 ; RCV000606499 ; RCV002056601
• dbSNP Id: rs9916754
• ExAC: 17:40939460 C / T
• gnomAD v2: 17-40939460-C-T
• gnomAD v3: 17-42787442-C-T
• gnomAD v4: 17-42787442-C-T
• MyVariant Identifiers: chr17:g.40939460C>T (hg19) ; chr17:g.42787442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787442C>T , CM000679.2:g.42787442C>T	GRCh38
NC_000017.10:g.40939460C>T , CM000679.1:g.40939460C>T	GRCh37
NC_000017.9:g.38192986C>T	NCBI36
NG_016227.1:g.11812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1641C>T MANE Select	ENSP00000246914.4:p.Ala547=
ENST00000246914.9:c.1641C>T	ENSP00000246914.4:p.Ala547=
ENST00000587705.5:n.321C>T
ENST00000591448.5:c.*142C>T	ENSP00000467088.1:n.*142C>T
ENST00000592072.1:n.321C>T
NM_032387.4:c.1641C>T	NP_115763.2:p.Ala547=
XM_005257595.3:c.1641C>T	XP_005257652.1:p.Ala547=
XM_005257596.2:c.1641C>T	XP_005257653.1:p.Ala547=
XM_005257597.3:c.1641C>T	XP_005257654.1:p.Ala547=
XM_006722020.2:c.1641C>T	XP_006722083.1:p.Ala547=
XM_006722021.1:c.633C>T	XP_006722084.1:p.Ala211=
XM_006722022.1:c.633C>T	XP_006722085.1:p.Ala211=
XM_011525132.1:c.1641C>T	XP_011523434.1:p.Ala547=
XM_011525133.1:c.1641C>T	XP_011523435.1:p.Ala547=
XM_011525134.1:c.1641C>T	XP_011523436.1:p.Ala547=
XM_011525135.1:c.1641C>T	XP_011523437.1:p.Ala547=
NM_001321299.1:c.633C>T	NP_001308228.1:p.Ala211=
XM_017024962.1:c.1641C>T	XP_016880451.1:p.Ala547=
XM_017024966.1:c.633C>T	XP_016880455.1:p.Ala211=
NM_032387.5:c.1641C>T MANE Select	NP_115763.2:p.Ala547=
NM_001321299.2:c.633C>T	NP_001308228.1:p.Ala211=