{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8584261", "communityStandardTitle": [ "NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=344582[alleleid]", "alleleId": 344582, "preferredName": "NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/323337", "RCV": [ "RCV000351244", "RCV002521109" ], "variationId": 323337 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-40945665-G-A", "id": "17-40945665-G-A", "variant": "17:40945665 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.40945665G>A?assembly=hg19", "id": "chr17:g.40945665G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.42793647G>A?assembly=hg38", "id": "chr17:g.42793647G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200823152", "rs": 200823152 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-40945665-G-A?dataset=gnomad_r2_1", "id": "17-40945665-G-A", "variant": "17:40945665 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-42793647-G-A?dataset=gnomad_r3", "id": "17-42793647-G-A", "variant": "17:42793647 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-42793647-G-A?dataset=gnomad_r4", "id": "17-42793647-G-A", "variant": "17:42793647 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 42793647, "referenceAllele": "G", "start": 42793646 } ], "hgvs": [ "NC_000017.11:g.42793647G>A", "CM000679.2:g.42793647G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 40945665, "referenceAllele": "G", "start": 40945664 } ], "hgvs": [ "NC_000017.10:g.40945665G>A", "CM000679.1:g.40945665G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 38199191, "referenceAllele": "G", "start": 38199190 } ], "hgvs": [ "NC_000017.9:g.38199191G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 18017, "referenceAllele": "G", "start": 18016 } ], "hgvs": [ "NG_016227.1:g.18017G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003031" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2302, "referenceAllele": "G", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "ENST00000246914.10:c.2213G>A" ], "proteinEffect": { "hgvs": "ENSP00000246914.4:p.Arg738Gln", "hgvsWellDefined": "ENSP00000246914.4:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS741315", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000246914.10:c.2213G>A" }, "RefSeq": { "hgvs": "NM_032387.5:c.2213G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000246914.4:p.Arg738Gln" }, "RefSeq": { "hgvs": "NP_115763.2:p.Arg738Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2234, "referenceAllele": "G", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "ENST00000246914.9:c.2213G>A" ], "proteinEffect": { "hgvs": "ENSP00000246914.4:p.Arg738Gln", "hgvsWellDefined": "ENSP00000246914.4:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS249485" }, { "coordinates": [ { "allele": "A", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "ENST00000591448.5:c.*714G>A" ], "proteinEffect": { "hgvs": "ENSP00000467088.1:n.*714G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392878" }, { "coordinates": [ { "allele": "A", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "ENST00000592072.1:n.771G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393311" }, { "@id": "http://reg.genome.network/allele/PA645456790", "coordinates": [ { "allele": "A", "end": 2281, "referenceAllele": "G", "start": 2280 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "NM_032387.4:c.2213G>A" ], "proteinEffect": { "hgvs": "NP_115763.2:p.Arg738Gln", "hgvsWellDefined": "NP_115763.2:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS039050" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_005257595.3:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_005257652.1:p.Arg738Gln", "hgvsWellDefined": "XP_005257652.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS061765" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_005257596.2:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_005257653.1:p.Arg738Gln", "hgvsWellDefined": "XP_005257653.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS061766" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_005257597.3:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_005257654.1:p.Arg738Gln", "hgvsWellDefined": "XP_005257654.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS061767" }, { "coordinates": [ { "allele": "A", "end": 3183, "endIntronDirection": "-", "endIntronOffset": 966, "referenceAllele": "G", "start": 3183, "startIntronDirection": "-", "startIntronOffset": 967 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_006722020.2:c.2158-967G>A" ], "proteinEffect": { "hgvs": "XP_006722083.1:n.2158-967G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS074378" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_006722021.1:c.1205G>A" ], "proteinEffect": { "hgvs": "XP_006722084.1:p.Arg402Gln", "hgvsWellDefined": "XP_006722084.1:p.Arg402Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074379" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_006722022.1:c.1205G>A" ], "proteinEffect": { "hgvs": "XP_006722085.1:p.Arg402Gln", "hgvsWellDefined": "XP_006722085.1:p.Arg402Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS074380" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_011525132.1:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_011523434.1:p.Arg738Gln", "hgvsWellDefined": "XP_011523434.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS092251" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_011525133.1:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_011523435.1:p.Arg738Gln", "hgvsWellDefined": "XP_011523435.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS092252" }, { "coordinates": [ { "allele": "A", "end": 3183, "endIntronDirection": "-", "endIntronOffset": 966, "referenceAllele": "G", "start": 3183, "startIntronDirection": "-", "startIntronOffset": 967 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_011525134.1:c.2158-967G>A" ], "proteinEffect": { "hgvs": "XP_011523436.1:n.2158-967G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS092253" }, { "coordinates": [ { "allele": "A", "end": 3239, "referenceAllele": "G", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_011525135.1:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_011523437.1:p.Arg738Gln", "hgvsWellDefined": "XP_011523437.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS092254" }, { "@id": "http://reg.genome.network/allele/PA2827100064", "coordinates": [ { "allele": "A", "end": 2192, "referenceAllele": "G", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "NM_001321299.1:c.1205G>A" ], "proteinEffect": { "hgvs": "NP_001308228.1:p.Arg402Gln", "hgvsWellDefined": "NP_001308228.1:p.Arg402Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS514191" }, { "coordinates": [ { "allele": "A", "end": 3211, "referenceAllele": "G", "start": 3210 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_017024962.1:c.2213G>A" ], "proteinEffect": { "hgvs": "XP_016880451.1:p.Arg738Gln", "hgvsWellDefined": "XP_016880451.1:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS575397" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "XM_017024966.1:c.1205G>A" ], "proteinEffect": { "hgvs": "XP_016880455.1:p.Arg402Gln", "hgvsWellDefined": "XP_016880455.1:p.Arg402Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS575398" }, { "@id": "http://reg.genome.network/allele/PA645456790", "coordinates": [ { "allele": "A", "end": 2302, "referenceAllele": "G", "start": 2301 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "NM_032387.5:c.2213G>A" ], "proteinEffect": { "hgvs": "NP_115763.2:p.Arg738Gln", "hgvsWellDefined": "NP_115763.2:p.Arg738Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS671299", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000246914.10:c.2213G>A" }, "RefSeq": { "hgvs": "NM_032387.5:c.2213G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000246914.4:p.Arg738Gln" }, "RefSeq": { "hgvs": "NP_115763.2:p.Arg738Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2827100064", "coordinates": [ { "allele": "A", "end": 2213, "referenceAllele": "G", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN014544", "geneNCBI_id": 65266, "geneSymbol": "WNK4", "hgvs": [ "NM_001321299.2:c.1205G>A" ], "proteinEffect": { "hgvs": "NP_001308228.1:p.Arg402Gln", "hgvsWellDefined": "NP_001308228.1:p.Arg402Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS685293" } ], "type": "nucleotide" }