{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005370",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77909[alleleid]",
        "alleleId": 77909,
        "preferredName": "NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67013",
        "RCV": [
          "RCV000057559",
          "RCV000462343",
          "RCV000505766"
        ],
        "variationId": 67013
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2608806T>C?assembly=hg19",
        "id": "chr11:g.2608806T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2587576T>C?assembly=hg38",
        "id": "chr11:g.2587576T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199472768",
        "rs": 199472768
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2587576,
          "referenceAllele": "T",
          "start": 2587575
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2587576T>C",
        "CM000673.2:g.2587576T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2608806,
          "referenceAllele": "T",
          "start": 2608805
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2608806T>C",
        "CM000673.1:g.2608806T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2565382,
          "referenceAllele": "T",
          "start": 2565381
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2565382T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147586,
          "referenceAllele": "T",
          "start": 147585
        }
      ],
      "hgvs": [
        "NG_008935.1:g.147586T>C",
        "LRG_287:g.147586T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "referenceAllele": "T",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Trp260Arg",
        "hgvsWellDefined": "ENSP00000434560.2:p.Trp260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "T",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.595T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:p.Trp199Arg",
        "hgvsWellDefined": "ENSP00000495806.2:p.Trp199Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Trp379Arg",
        "hgvsWellDefined": "ENSP00000155840.2:p.Trp379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Trp379Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Trp379Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "T",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.754T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Trp252Arg",
        "hgvsWellDefined": "ENSP00000334497.5:p.Trp252Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "T",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.241T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:p.Trp81Arg",
        "hgvsWellDefined": "ENSP00000495806.1:p.Trp81Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Trp379Arg",
        "hgvsWellDefined": "ENSP00000155840.2:p.Trp379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "T",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.754T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Trp252Arg",
        "hgvsWellDefined": "ENSP00000334497.5:p.Trp252Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144921",
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1135T>C",
        "LRG_287t1:c.1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Trp379Arg",
        "hgvsWellDefined": "NP_000209.2:p.Trp379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144920",
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.754T>C",
        "LRG_287t2:c.754T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Trp252Arg",
        "hgvsWellDefined": "NP_861463.1:p.Trp252Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144921",
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Trp379Arg",
        "hgvsWellDefined": "NP_000209.2:p.Trp379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Trp379Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Trp379Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}