{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118917",
  "communityStandardTitle": [
    "NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22638[alleleid]",
        "alleleId": 22638,
        "preferredName": "NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7599",
        "RCV": [
          "RCV000008037",
          "RCV000413605",
          "RCV001536025"
        ],
        "variationId": 7599
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-16382003-G-A",
        "id": "1-16382003-G-A",
        "variant": "1:16382003 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16382003G>A?assembly=hg19",
        "id": "chr1:g.16382003G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16055508G>A?assembly=hg38",
        "id": "chr1:g.16055508G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909136",
        "rs": 121909136
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16382003-G-A?dataset=gnomad_r2_1",
        "id": "1-16382003-G-A",
        "variant": "1:16382003 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16055508-G-A?dataset=gnomad_r3",
        "id": "1-16055508-G-A",
        "variant": "1:16055508 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16055508-G-A?dataset=gnomad_r4",
        "id": "1-16055508-G-A",
        "variant": "1:16055508 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 16055508,
          "referenceAllele": "G",
          "start": 16055507
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16055508G>A",
        "CM000663.2:g.16055508G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 16382003,
          "referenceAllele": "G",
          "start": 16382002
        }
      ],
      "hgvs": [
        "NC_000001.10:g.16382003G>A",
        "CM000663.1:g.16382003G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 16254590,
          "referenceAllele": "G",
          "start": 16254589
        }
      ],
      "hgvs": [
        "NC_000001.9:g.16254590G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16757,
          "referenceAllele": "G",
          "start": 16756
        }
      ],
      "hgvs": [
        "NG_013079.1:g.16757G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "G",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682338.1:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507062.1:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000507062.1:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2510,
          "referenceAllele": "G",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682793.1:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506910.1:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000506910.1:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2637,
          "referenceAllele": "G",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682838.1:c.*1572G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507652.1:n.*1572G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2366,
          "referenceAllele": "G",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683578.1:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507430.1:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000507430.1:p.Trp610_Lys686delinsAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683606.1:n.1436G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3365,
          "referenceAllele": "G",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683661.1:n.3365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2734,
          "referenceAllele": "G",
          "start": 2733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684324.1:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507937.1:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000507937.1:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684545.1:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506733.1:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000506733.1:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684624.1:n.1207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684714.1:c.*50G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506861.1:n.*50G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684731.1:n.1157G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375679.9:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364831.5:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000364831.5:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375679.9:c.1830G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000085.5:c.1830G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364831.5:p.Trp610Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000076.2:p.Trp610Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375667.7:c.1323G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364819.3:p.Trp441Ter",
        "hgvsWellDefined": "ENSP00000364819.3:p.Trp441_Lys517delinsAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375679.8:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364831.4:p.Trp610Ter",
        "hgvsWellDefined": "ENSP00000364831.4:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000431772.1:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389344.1:p.Trp99Ter",
        "hgvsWellDefined": "ENSP00000389344.1:p.Trp99_Ser146delinsAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaGlnMetProSerGlyValValTrpPheProValArgGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "endIntronDirection": "-",
          "endIntronOffset": 1678,
          "referenceAllele": "G",
          "start": 1445,
          "startIntronDirection": "-",
          "startIntronOffset": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000619181.4:c.1294-1679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483866.1:n.1294-1679G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118918",
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_000085.4:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000076.2:p.Trp610Ter",
        "hgvsWellDefined": "NP_000076.2:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826007974",
      "coordinates": [
        {
          "allele": "A",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_001165945.2:c.1323G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159417.2:p.Trp441Ter",
        "hgvsWellDefined": "NP_001159417.2:p.Trp441_Lys517delinsAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2139,
          "referenceAllele": "G",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "XM_011540619.1:c.1671G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538921.1:p.Trp557Ter",
        "hgvsWellDefined": "XP_011538921.1:p.Trp557_Lys634delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "referenceAllele": "G",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "XM_011540621.1:c.1179G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538923.1:p.Trp393Ter",
        "hgvsWellDefined": "XP_011538923.1:p.Trp393_Lys470delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118918",
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_000085.5:c.1830G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000076.2:p.Trp610Ter",
        "hgvsWellDefined": "NP_000076.2:p.Trp610_Lys687delinsAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaAlaGlyCysProThrGluProValThrLeuLysLeuSerProGluThrSerLeuHisGluAlaHisAsnLeuPheGluLeuLeuAsnLeuHisSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375679.9:c.1830G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000085.5:c.1830G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364831.5:p.Trp610Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000076.2:p.Trp610Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}