Canonical Allele Identifier: CA8583738
Gene: WNK4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42782818G>T
GRCh37 chr17:g.40934836G>T
Revel Score:
ENST00000246914 (MANE Select) 0.359
gnomAD v2:
17:40934836 G / T
gnomAD v3:
17:42782818 G / T
gnomAD v4:
chr17-42782818-G-T
Joint Max Group AF 0.0057415 (AMR)
Genomes Max Group AF 0.00119042 (AMR)
Exomes Max Group AF 0.00715013 (AMR)
ClinVar Allele:
328526
ClinVar RCV:
RCV000341945
RCV002522968
ClinVar Variation:
323314
dbSNP:
140897013
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42782818G>T , CM000679.2:g.42782818G>T GRCh38
NC_000017.10:g.40934836G>T , CM000679.1:g.40934836G>T GRCh37
NC_000017.9:g.38188362G>T NCBI36
NG_016227.1:g.7188G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246914.10:c.679G>T MANE Select ENSP00000246914.4:p.Gly227Trp
ENST00000246914.9:c.679G>T ENSP00000246914.4:p.Gly227Trp
ENST00000591448.5:c.679G>T ENSP00000467088.1:p.Gly227Trp
NM_032387.4:c.679G>T NP_115763.2:p.Gly227Trp
XM_005257595.3:c.679G>T XP_005257652.1:p.Gly227Trp
XM_005257596.2:c.679G>T XP_005257653.1:p.Gly227Trp
XM_005257597.3:c.679G>T XP_005257654.1:p.Gly227Trp
XM_006722020.2:c.679G>T XP_006722083.1:p.Gly227Trp
XM_011525132.1:c.679G>T XP_011523434.1:p.Gly227Trp
XM_011525133.1:c.679G>T XP_011523435.1:p.Gly227Trp
XM_011525134.1:c.679G>T XP_011523436.1:p.Gly227Trp
XM_011525135.1:c.679G>T XP_011523437.1:p.Gly227Trp
NM_001321299.1:c.-241G>T NP_001308228.1:n.-241G>T
XM_017024962.1:c.679G>T XP_016880451.1:p.Gly227Trp
NM_032387.5:c.679G>T MANE Select NP_115763.2:p.Gly227Trp
NM_001321299.2:c.-241G>T NP_001308228.1:n.-241G>T
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