Canonical Allele Identifier: CA399656784

Gene: WNK4

Linked Data

• dbSNP Id: rs1160906653
• gnomAD v3: 17-42787398-C-G
• gnomAD v4: 17-42787398-C-G
• MyVariant Identifiers: chr17:g.40939416C>G (hg19) ; chr17:g.42787398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787398C>G , CM000679.2:g.42787398C>G	GRCh38
NC_000017.10:g.40939416C>G , CM000679.1:g.40939416C>G	GRCh37
NC_000017.9:g.38192942C>G	NCBI36
NG_016227.1:g.11768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1597C>G MANE Select	ENSP00000246914.4:p.Leu533Val
ENST00000246914.9:c.1597C>G	ENSP00000246914.4:p.Leu533Val
ENST00000587705.5:n.277C>G
ENST00000591448.5:c.*98C>G	ENSP00000467088.1:n.*98C>G
ENST00000592072.1:n.277C>G
NM_032387.4:c.1597C>G	NP_115763.2:p.Leu533Val
XM_005257595.3:c.1597C>G	XP_005257652.1:p.Leu533Val
XM_005257596.2:c.1597C>G	XP_005257653.1:p.Leu533Val
XM_005257597.3:c.1597C>G	XP_005257654.1:p.Leu533Val
XM_006722020.2:c.1597C>G	XP_006722083.1:p.Leu533Val
XM_006722021.1:c.589C>G	XP_006722084.1:p.Leu197Val
XM_006722022.1:c.589C>G	XP_006722085.1:p.Leu197Val
XM_011525132.1:c.1597C>G	XP_011523434.1:p.Leu533Val
XM_011525133.1:c.1597C>G	XP_011523435.1:p.Leu533Val
XM_011525134.1:c.1597C>G	XP_011523436.1:p.Leu533Val
XM_011525135.1:c.1597C>G	XP_011523437.1:p.Leu533Val
NM_001321299.1:c.589C>G	NP_001308228.1:p.Leu197Val
XM_017024962.1:c.1597C>G	XP_016880451.1:p.Leu533Val
XM_017024966.1:c.589C>G	XP_016880455.1:p.Leu197Val
NM_032387.5:c.1597C>G MANE Select	NP_115763.2:p.Leu533Val
NM_001321299.2:c.589C>G	NP_001308228.1:p.Leu197Val