Canonical Allele Identifier: CA216494

Gene: WNK4

Linked Data

• ClinVar Variation Id: 64604
• ClinVar RCV Id: RCV000054791
• dbSNP Id: rs387907559
• gnomAD v4: 17-42784118-G-A
• MyVariant Identifiers: chr17:g.40936136G>A (hg19) ; chr17:g.42784118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42784118G>A , CM000679.2:g.42784118G>A	GRCh38
NC_000017.10:g.40936136G>A , CM000679.1:g.40936136G>A	GRCh37
NC_000017.9:g.38189662G>A	NCBI36
NG_016227.1:g.8488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.973G>A MANE Select	ENSP00000246914.4:p.Ala325Thr
ENST00000246914.9:c.973G>A	ENSP00000246914.4:p.Ala325Thr
ENST00000591448.5:c.973G>A	ENSP00000467088.1:p.Ala325Thr
ENST00000592669.1:n.510G>A
NM_032387.4:c.973G>A	NP_115763.2:p.Ala325Thr
XM_005257595.3:c.973G>A	XP_005257652.1:p.Ala325Thr
XM_005257596.2:c.973G>A	XP_005257653.1:p.Ala325Thr
XM_005257597.3:c.973G>A	XP_005257654.1:p.Ala325Thr
XM_006722020.2:c.973G>A	XP_006722083.1:p.Ala325Thr
XM_006722021.1:c.54G>A	XP_006722084.1:p.Trp18Ter
XM_006722022.1:c.54G>A	XP_006722085.1:p.Trp18Ter
XM_011525132.1:c.973G>A	XP_011523434.1:p.Ala325Thr
XM_011525133.1:c.973G>A	XP_011523435.1:p.Ala325Thr
XM_011525134.1:c.973G>A	XP_011523436.1:p.Ala325Thr
XM_011525135.1:c.973G>A	XP_011523437.1:p.Ala325Thr
NM_001321299.1:c.54G>A	NP_001308228.1:p.Trp18Ter
XM_017024962.1:c.973G>A	XP_016880451.1:p.Ala325Thr
XM_017024966.1:c.54G>A	XP_016880455.1:p.Trp18Ter
NM_032387.5:c.973G>A MANE Select	NP_115763.2:p.Ala325Thr
NM_001321299.2:c.54G>A	NP_001308228.1:p.Trp18Ter