{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008229",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67772[alleleid]",
        "alleleId": 67772,
        "preferredName": "NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53104",
        "RCV": [
          "RCV000057760",
          "RCV001381194"
        ],
        "variationId": 53104
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2594078G>C?assembly=hg19",
        "id": "chr11:g.2594078G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2572848G>C?assembly=hg38",
        "id": "chr11:g.2572848G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199472721",
        "rs": 199472721
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2572848,
          "referenceAllele": "G",
          "start": 2572847
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2572848G>C",
        "CM000673.2:g.2572848G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2594078,
          "referenceAllele": "G",
          "start": 2594077
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2594078G>C",
        "CM000673.1:g.2594078G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 2550654,
          "referenceAllele": "G",
          "start": 2550653
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2550654G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132858,
          "referenceAllele": "G",
          "start": 132857
        }
      ],
      "hgvs": [
        "NG_008935.1:g.132858G>C",
        "LRG_287:g.132858G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Glu174Asp",
        "hgvsWellDefined": "ENSP00000434560.2:p.Glu174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "endIntronDirection": "-",
          "endIntronOffset": 10586,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "-",
          "startIntronOffset": 10587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.478-10587G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.478-10587G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.783G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Glu261Asp",
        "hgvsWellDefined": "ENSP00000155840.2:p.Glu261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.783G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.783G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Glu261Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Glu261Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Glu134Asp",
        "hgvsWellDefined": "ENSP00000334497.5:p.Glu134Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 10586,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 10587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.124-10587G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.124-10587G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.783G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Glu261Asp",
        "hgvsWellDefined": "ENSP00000155840.2:p.Glu261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.402G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Glu134Asp",
        "hgvsWellDefined": "ENSP00000334497.5:p.Glu134Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.6:c.522G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.1:p.Glu174Asp",
        "hgvsWellDefined": "ENSP00000434560.1:p.Glu174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111065",
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.783G>C",
        "LRG_287t1:c.783G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Glu261Asp",
        "hgvsWellDefined": "NP_000209.2:p.Glu261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326262",
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.402G>C",
        "LRG_287t2:c.402G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Glu134Asp",
        "hgvsWellDefined": "NP_861463.1:p.Glu134Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111065",
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.783G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Glu261Asp",
        "hgvsWellDefined": "NP_000209.2:p.Glu261Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.783G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.783G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Glu261Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Glu261Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}