{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2612638094",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.*70C>A"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17386849-G-T?dataset=gnomad_r4",
        "id": "11-17386849-G-T",
        "variant": "11:17386849 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17386849,
          "referenceAllele": "G",
          "start": 17386848
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17386849G>T",
        "CM000673.2:g.17386849G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17408396,
          "referenceAllele": "G",
          "start": 17408395
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408396G>T",
        "CM000673.1:g.17408396G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17364972,
          "referenceAllele": "G",
          "start": 17364971
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17364972G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6811,
          "referenceAllele": "C",
          "start": 6810
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6811C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "C",
          "start": 1032,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.*50+20C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:n.*50+20C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.*70C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.*70C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:n.*70C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:n.*70C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "C",
          "start": 1381,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1381+20C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.*70C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:n.*70C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.*70C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.*70C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:n.*70C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:n.*70C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}