Canonical Allele Identifier: CA8584018

Gene: WNK4

Linked Data

• dbSNP Id: rs748555139
• ExAC: 17:40939352 T / C
• gnomAD v2: 17-40939352-T-C
• MyVariant Identifiers: chr17:g.40939352T>C (hg19) ; chr17:g.42787334T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787334T>C , CM000679.2:g.42787334T>C	GRCh38
NC_000017.10:g.40939352T>C , CM000679.1:g.40939352T>C	GRCh37
NC_000017.9:g.38192878T>C	NCBI36
NG_016227.1:g.11704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1533T>C MANE Select	ENSP00000246914.4:p.Arg511=
ENST00000246914.9:c.1533T>C	ENSP00000246914.4:p.Arg511=
ENST00000587705.5:n.213T>C
ENST00000591448.5:c.*34T>C	ENSP00000467088.1:n.*34T>C
ENST00000592072.1:n.213T>C
NM_032387.4:c.1533T>C	NP_115763.2:p.Arg511=
XM_005257595.3:c.1533T>C	XP_005257652.1:p.Arg511=
XM_005257596.2:c.1533T>C	XP_005257653.1:p.Arg511=
XM_005257597.3:c.1533T>C	XP_005257654.1:p.Arg511=
XM_006722020.2:c.1533T>C	XP_006722083.1:p.Arg511=
XM_006722021.1:c.525T>C	XP_006722084.1:p.Arg175=
XM_006722022.1:c.525T>C	XP_006722085.1:p.Arg175=
XM_011525132.1:c.1533T>C	XP_011523434.1:p.Arg511=
XM_011525133.1:c.1533T>C	XP_011523435.1:p.Arg511=
XM_011525134.1:c.1533T>C	XP_011523436.1:p.Arg511=
XM_011525135.1:c.1533T>C	XP_011523437.1:p.Arg511=
NM_001321299.1:c.525T>C	NP_001308228.1:p.Arg175=
XM_017024962.1:c.1533T>C	XP_016880451.1:p.Arg511=
XM_017024966.1:c.525T>C	XP_016880455.1:p.Arg175=
NM_032387.5:c.1533T>C MANE Select	NP_115763.2:p.Arg511=
NM_001321299.2:c.525T>C	NP_001308228.1:p.Arg175=