Canonical Allele Identifier: CA8584047

Gene: WNK4

Linked Data

• dbSNP Id: rs761732493
• ExAC: 17:40939474 G / C
• gnomAD v2: 17-40939474-G-C
• gnomAD v4: 17-42787456-G-C
• MyVariant Identifiers: chr17:g.40939474G>C (hg19) ; chr17:g.42787456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787456G>C , CM000679.2:g.42787456G>C	GRCh38
NC_000017.10:g.40939474G>C , CM000679.1:g.40939474G>C	GRCh37
NC_000017.9:g.38193000G>C	NCBI36
NG_016227.1:g.11826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1655G>C MANE Select	ENSP00000246914.4:p.Ser552Thr
ENST00000246914.9:c.1655G>C	ENSP00000246914.4:p.Ser552Thr
ENST00000587705.5:n.335G>C
ENST00000591448.5:c.*156G>C	ENSP00000467088.1:n.*156G>C
ENST00000592072.1:n.335G>C
NM_032387.4:c.1655G>C	NP_115763.2:p.Ser552Thr
XM_005257595.3:c.1655G>C	XP_005257652.1:p.Ser552Thr
XM_005257596.2:c.1655G>C	XP_005257653.1:p.Ser552Thr
XM_005257597.3:c.1655G>C	XP_005257654.1:p.Ser552Thr
XM_006722020.2:c.1655G>C	XP_006722083.1:p.Ser552Thr
XM_006722021.1:c.647G>C	XP_006722084.1:p.Ser216Thr
XM_006722022.1:c.647G>C	XP_006722085.1:p.Ser216Thr
XM_011525132.1:c.1655G>C	XP_011523434.1:p.Ser552Thr
XM_011525133.1:c.1655G>C	XP_011523435.1:p.Ser552Thr
XM_011525134.1:c.1655G>C	XP_011523436.1:p.Ser552Thr
XM_011525135.1:c.1655G>C	XP_011523437.1:p.Ser552Thr
NM_001321299.1:c.647G>C	NP_001308228.1:p.Ser216Thr
XM_017024962.1:c.1655G>C	XP_016880451.1:p.Ser552Thr
XM_017024966.1:c.647G>C	XP_016880455.1:p.Ser216Thr
NM_032387.5:c.1655G>C MANE Select	NP_115763.2:p.Ser552Thr
NM_001321299.2:c.647G>C	NP_001308228.1:p.Ser216Thr