{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005889",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67659[alleleid]",
        "alleleId": 67659,
        "preferredName": "NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52991",
        "RCV": [
          "RCV000045995",
          "RCV000057592",
          "RCV000735257",
          "RCV004017348"
        ],
        "variationId": 52991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2790111C>G?assembly=hg19",
        "id": "chr11:g.2790111C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2768881C>G?assembly=hg38",
        "id": "chr11:g.2768881C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17215500",
        "rs": 17215500
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2768881,
          "referenceAllele": "C",
          "start": 2768880
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2768881C>G",
        "CM000673.2:g.2768881C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2790111,
          "referenceAllele": "C",
          "start": 2790110
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2790111C>G",
        "CM000673.1:g.2790111C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2746687,
          "referenceAllele": "C",
          "start": 2746686
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2746687C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328891,
          "referenceAllele": "C",
          "start": 328890
        }
      ],
      "hgvs": [
        "NG_008935.1:g.328891C>G",
        "LRG_287:g.328891C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1195C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Arg399Gly",
        "hgvsWellDefined": "ENSP00000434560.2:p.Arg399Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.1012C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:p.Arg338Gly",
        "hgvsWellDefined": "ENSP00000495806.2:p.Arg338Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1552C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Arg518Gly",
        "hgvsWellDefined": "ENSP00000155840.2:p.Arg518Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1552C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1552C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Arg518Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Arg518Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1171C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Arg391Gly",
        "hgvsWellDefined": "ENSP00000334497.5:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.658C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:p.Arg220Gly",
        "hgvsWellDefined": "ENSP00000495806.1:p.Arg220Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1552C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Arg518Gly",
        "hgvsWellDefined": "ENSP00000155840.2:p.Arg518Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1171C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Arg391Gly",
        "hgvsWellDefined": "ENSP00000334497.5:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326112",
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1552C>G",
        "LRG_287t1:c.1552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Arg518Gly",
        "hgvsWellDefined": "NP_000209.2:p.Arg518Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326111",
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1171C>G",
        "LRG_287t2:c.1171C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Arg391Gly",
        "hgvsWellDefined": "NP_861463.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA326112",
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Arg518Gly",
        "hgvsWellDefined": "NP_000209.2:p.Arg518Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1552C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1552C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Arg518Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Arg518Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}