Canonical Allele Identifier: CA8584052

Gene: WNK4

Linked Data

• dbSNP Id: rs57737815
• ExAC: 17:40939483 C / A
• gnomAD v2: 17-40939483-C-A
• gnomAD v4: 17-42787465-C-A
• MyVariant Identifiers: chr17:g.40939483C>A (hg19) ; chr17:g.42787465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787465C>A , CM000679.2:g.42787465C>A	GRCh38
NC_000017.10:g.40939483C>A , CM000679.1:g.40939483C>A	GRCh37
NC_000017.9:g.38193009C>A	NCBI36
NG_016227.1:g.11835C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1664C>A MANE Select	ENSP00000246914.4:p.Pro555His
ENST00000246914.9:c.1664C>A	ENSP00000246914.4:p.Pro555His
ENST00000587705.5:n.344C>A
ENST00000591448.5:c.*165C>A	ENSP00000467088.1:n.*165C>A
ENST00000592072.1:n.344C>A
NM_032387.4:c.1664C>A	NP_115763.2:p.Pro555His
XM_005257595.3:c.1664C>A	XP_005257652.1:p.Pro555His
XM_005257596.2:c.1664C>A	XP_005257653.1:p.Pro555His
XM_005257597.3:c.1664C>A	XP_005257654.1:p.Pro555His
XM_006722020.2:c.1664C>A	XP_006722083.1:p.Pro555His
XM_006722021.1:c.656C>A	XP_006722084.1:p.Pro219His
XM_006722022.1:c.656C>A	XP_006722085.1:p.Pro219His
XM_011525132.1:c.1664C>A	XP_011523434.1:p.Pro555His
XM_011525133.1:c.1664C>A	XP_011523435.1:p.Pro555His
XM_011525134.1:c.1664C>A	XP_011523436.1:p.Pro555His
XM_011525135.1:c.1664C>A	XP_011523437.1:p.Pro555His
NM_001321299.1:c.656C>A	NP_001308228.1:p.Pro219His
XM_017024962.1:c.1664C>A	XP_016880451.1:p.Pro555His
XM_017024966.1:c.656C>A	XP_016880455.1:p.Pro219His
NM_032387.5:c.1664C>A MANE Select	NP_115763.2:p.Pro555His
NM_001321299.2:c.656C>A	NP_001308228.1:p.Pro219His