{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1955118925",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.*172C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5211",
        "rs": 5211
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17386747,
          "referenceAllele": "G",
          "start": 17386746
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17386747G=",
        "CM000673.2:g.17386747G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17408294,
          "referenceAllele": "G",
          "start": 17408293
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408294G=",
        "CM000673.1:g.17408294G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17364870,
          "referenceAllele": "G",
          "start": 17364869
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17364870G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6913,
          "referenceAllele": "C",
          "start": 6912
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6913C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "C",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.*50+122C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:n.*50+122C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.*172C="
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.*172C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:n.*172C="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:n.*172C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4,
          "referenceAllele": "C",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000526747.1:n.4C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "endIntronDirection": "+",
          "endIntronOffset": 122,
          "referenceAllele": "C",
          "start": 1381,
          "startIntronDirection": "+",
          "startIntronOffset": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1381+122C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1542,
          "referenceAllele": "C",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.*172C="
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.*172C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:n.*172C="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:n.*172C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}