{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA473515426",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.588C>T (p.Leu196=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17409051G>A?assembly=hg19",
        "id": "chr11:g.17409051G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17387504,
          "referenceAllele": "G",
          "start": 17387503
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387504G>A",
        "CM000673.2:g.17387504G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17409051,
          "referenceAllele": "G",
          "start": 17409050
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17409051G>A",
        "CM000673.1:g.17409051G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17365627,
          "referenceAllele": "G",
          "start": 17365626
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365627G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6156,
          "referenceAllele": "C",
          "start": 6155
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Leu196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Leu196="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Leu196="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Leu196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000526912.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432729.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078721943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Leu196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078721943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Leu196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Leu196="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Leu196="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}