Canonical Allele Identifier: CA254225

Gene: WNK4

Linked Data

• ClinVar Variation Id: 7660
• ClinVar RCV Id: RCV000008099
• dbSNP Id: rs137853092
• MyVariant Identifiers: chr17:g.40939512C>G (hg19) ; chr17:g.42787494C>G (hg38)
• PubMed: PMID:718348 ; PMID:9171836 ; PMID:11498583 ; PMID:12107233 ; PMID:15292344 ; PMID:22073419

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787494C>G , CM000679.2:g.42787494C>G	GRCh38
NC_000017.10:g.40939512C>G , CM000679.1:g.40939512C>G	GRCh37
NC_000017.9:g.38193038C>G	NCBI36
NG_016227.1:g.11864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1693C>G MANE Select	ENSP00000246914.4:p.Gln565Glu
ENST00000246914.9:c.1693C>G	ENSP00000246914.4:p.Gln565Glu
ENST00000587705.5:n.373C>G
ENST00000591448.5:c.*194C>G	ENSP00000467088.1:n.*194C>G
ENST00000592072.1:n.373C>G
NM_032387.4:c.1693C>G	NP_115763.2:p.Gln565Glu
XM_005257595.3:c.1693C>G	XP_005257652.1:p.Gln565Glu
XM_005257596.2:c.1693C>G	XP_005257653.1:p.Gln565Glu
XM_005257597.3:c.1693C>G	XP_005257654.1:p.Gln565Glu
XM_006722020.2:c.1693C>G	XP_006722083.1:p.Gln565Glu
XM_006722021.1:c.685C>G	XP_006722084.1:p.Gln229Glu
XM_006722022.1:c.685C>G	XP_006722085.1:p.Gln229Glu
XM_011525132.1:c.1693C>G	XP_011523434.1:p.Gln565Glu
XM_011525133.1:c.1693C>G	XP_011523435.1:p.Gln565Glu
XM_011525134.1:c.1693C>G	XP_011523436.1:p.Gln565Glu
XM_011525135.1:c.1693C>G	XP_011523437.1:p.Gln565Glu
NM_001321299.1:c.685C>G	NP_001308228.1:p.Gln229Glu
XM_017024962.1:c.1693C>G	XP_016880451.1:p.Gln565Glu
XM_017024966.1:c.685C>G	XP_016880455.1:p.Gln229Glu
NM_032387.5:c.1693C>G MANE Select	NP_115763.2:p.Gln565Glu
NM_001321299.2:c.685C>G	NP_001308228.1:p.Gln229Glu