Canonical Allele Identifier: CA399657508

Gene: WNK4

Linked Data

• ClinVar Variation Id: 2747931
• ClinVar RCV Id: RCV003570707
• MyVariant Identifiers: chr17:g.40939513A>C (hg19) ; chr17:g.42787495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787495A>C , CM000679.2:g.42787495A>C	GRCh38
NC_000017.10:g.40939513A>C , CM000679.1:g.40939513A>C	GRCh37
NC_000017.9:g.38193039A>C	NCBI36
NG_016227.1:g.11865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1694A>C MANE Select	ENSP00000246914.4:p.Gln565Pro
ENST00000246914.9:c.1694A>C	ENSP00000246914.4:p.Gln565Pro
ENST00000587705.5:n.374A>C
ENST00000591448.5:c.*195A>C	ENSP00000467088.1:n.*195A>C
ENST00000592072.1:n.374A>C
NM_032387.4:c.1694A>C	NP_115763.2:p.Gln565Pro
XM_005257595.3:c.1694A>C	XP_005257652.1:p.Gln565Pro
XM_005257596.2:c.1694A>C	XP_005257653.1:p.Gln565Pro
XM_005257597.3:c.1694A>C	XP_005257654.1:p.Gln565Pro
XM_006722020.2:c.1694A>C	XP_006722083.1:p.Gln565Pro
XM_006722021.1:c.686A>C	XP_006722084.1:p.Gln229Pro
XM_006722022.1:c.686A>C	XP_006722085.1:p.Gln229Pro
XM_011525132.1:c.1694A>C	XP_011523434.1:p.Gln565Pro
XM_011525133.1:c.1694A>C	XP_011523435.1:p.Gln565Pro
XM_011525134.1:c.1694A>C	XP_011523436.1:p.Gln565Pro
XM_011525135.1:c.1694A>C	XP_011523437.1:p.Gln565Pro
NM_001321299.1:c.686A>C	NP_001308228.1:p.Gln229Pro
XM_017024962.1:c.1694A>C	XP_016880451.1:p.Gln565Pro
XM_017024966.1:c.686A>C	XP_016880455.1:p.Gln229Pro
NM_032387.5:c.1694A>C MANE Select	NP_115763.2:p.Gln565Pro
NM_001321299.2:c.686A>C	NP_001308228.1:p.Gln229Pro