{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379769650",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.958G>C (p.Ala320Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17408681C>G?assembly=hg19",
        "id": "chr11:g.17408681C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17387134C>G?assembly=hg38",
        "id": "chr11:g.17387134C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17387134,
          "referenceAllele": "C",
          "start": 17387133
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387134C>G",
        "CM000673.2:g.17387134C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17408681,
          "referenceAllele": "C",
          "start": 17408680
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408681C>G",
        "CM000673.1:g.17408681C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17365257,
          "referenceAllele": "C",
          "start": 17365256
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365257C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6526,
          "referenceAllele": "G",
          "start": 6525
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6526G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Ala233Pro",
        "hgvsWellDefined": "ENSP00000508090.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Ala233Pro",
        "hgvsWellDefined": "ENSP00000506780.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.958G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Ala320Pro",
        "hgvsWellDefined": "ENSP00000345708.4:p.Ala320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.958G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.958G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Ala320Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Ala320Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.958G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Ala320Pro",
        "hgvsWellDefined": "ENSP00000345708.4:p.Ala320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Ala233Pro",
        "hgvsWellDefined": "ENSP00000434755.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.958G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Ala320Pro",
        "hgvsWellDefined": "NP_000516.3:p.Ala320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Ala233Pro",
        "hgvsWellDefined": "NP_001159762.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Ala233Pro",
        "hgvsWellDefined": "XP_006718289.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "G",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1116G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Ala233Pro",
        "hgvsWellDefined": "XP_006718289.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Ala233Pro",
        "hgvsWellDefined": "XP_016873169.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Ala233Pro",
        "hgvsWellDefined": "NP_001159762.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Ala233Pro",
        "hgvsWellDefined": "NP_001364225.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.697G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Ala233Pro",
        "hgvsWellDefined": "NP_001364226.1:p.Ala233Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.958G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Ala320Pro",
        "hgvsWellDefined": "NP_000516.3:p.Ala320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.958G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.958G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Ala320Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Ala320Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}