{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1820664528",
  "communityStandardTitle": [
    "NM_004519.4(KCNQ3):c.895G= (p.Glu299=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118192247",
        "rs": 118192247
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 132175491,
          "referenceAllele": "C",
          "start": 132175490
        }
      ],
      "hgvs": [
        "NC_000008.11:g.132175491C=",
        "CM000670.2:g.132175491C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 133187738,
          "referenceAllele": "C",
          "start": 133187737
        }
      ],
      "hgvs": [
        "NC_000008.10:g.133187738C=",
        "CM000670.1:g.133187738C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 133256920,
          "referenceAllele": "C",
          "start": 133256919
        }
      ],
      "hgvs": [
        "NC_000008.9:g.133256920C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 310267,
          "referenceAllele": "G",
          "start": 310266
        }
      ],
      "hgvs": [
        "NG_008854.2:g.310267G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001251"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000388996.10:c.895G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373648.3:p.Glu299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388996.10:c.895G="
          },
          "RefSeq": {
            "hgvs": "NM_004519.4:c.895G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373648.3:p.Glu299="
          },
          "RefSeq": {
            "hgvs": "NP_004510.1:p.Glu299="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000521134.6:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429799.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000638588.1:c.568G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491940.1:p.Glu190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000639358.1:c.545G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000639496.1:c.568G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491165.1:p.Glu190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000388996.8:c.895G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373648.3:p.Glu299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000519445.5:c.895G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428790.1:p.Glu299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000519589.1:n.673G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000521134.5:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429799.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "ENST00000621976.1:c.532G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482510.1:p.Glu178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275812",
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NM_001204824.1:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191753.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829532520",
      "coordinates": [
        {
          "allele": "G",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NM_004519.3:c.895G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004510.1:p.Glu299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_005250914.2:c.-262G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250971.1:n.-262G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_006716555.2:c.187G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716618.1:p.Glu63="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_011517026.1:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515328.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_005250914.3:c.-262G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250971.1:n.-262G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_006716555.3:c.187G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716618.1:p.Glu63="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_011517026.2:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515328.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10626,
          "referenceAllele": "G",
          "start": 10625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "XM_017013400.1:c.673G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868889.1:p.Glu225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829532520",
      "coordinates": [
        {
          "allele": "G",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NM_004519.4:c.895G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004510.1:p.Glu299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388996.10:c.895G="
          },
          "RefSeq": {
            "hgvs": "NM_004519.4:c.895G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373648.3:p.Glu299="
          },
          "RefSeq": {
            "hgvs": "NP_004510.1:p.Glu299="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275812",
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NM_001204824.2:c.535G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001191753.1:p.Glu179="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714170"
    }
  ],
  "type": "nucleotide"
}