{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379133678",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1053T>G (p.Phe351Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2606462T>G?assembly=hg19",
        "id": "chr11:g.2606462T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2585232T>G?assembly=hg38",
        "id": "chr11:g.2585232T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2585232,
          "referenceAllele": "T",
          "start": 2585231
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2585232T>G",
        "CM000673.2:g.2585232T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2606462,
          "referenceAllele": "T",
          "start": 2606461
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2606462T>G",
        "CM000673.1:g.2606462T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 2563038,
          "referenceAllele": "T",
          "start": 2563037
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2563038T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145242,
          "referenceAllele": "T",
          "start": 145241
        }
      ],
      "hgvs": [
        "NG_008935.1:g.145242T>G",
        "LRG_287:g.145242T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "+",
          "endIntronOffset": 1687,
          "referenceAllele": "T",
          "start": 803,
          "startIntronDirection": "+",
          "startIntronOffset": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.771+1687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:n.771+1687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "endIntronDirection": "+",
          "endIntronOffset": 1687,
          "referenceAllele": "T",
          "start": 679,
          "startIntronDirection": "+",
          "startIntronOffset": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.588+1687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.588+1687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "T",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1053T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Phe351Leu",
        "hgvsWellDefined": "ENSP00000155840.2:p.Phe351Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1053T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1053T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Phe351Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Phe351Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "T",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.672T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Phe224Leu",
        "hgvsWellDefined": "ENSP00000334497.5:p.Phe224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "endIntronDirection": "+",
          "endIntronOffset": 1687,
          "referenceAllele": "T",
          "start": 234,
          "startIntronDirection": "+",
          "startIntronOffset": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.234+1687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.234+1687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1053T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Phe351Leu",
        "hgvsWellDefined": "ENSP00000155840.2:p.Phe351Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "T",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.672T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Phe224Leu",
        "hgvsWellDefined": "ENSP00000334497.5:p.Phe224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421497",
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1053T>G",
        "LRG_287t1:c.1053T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Phe351Leu",
        "hgvsWellDefined": "NP_000209.2:p.Phe351Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830390210",
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "T",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.672T>G",
        "LRG_287t2:c.672T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Phe224Leu",
        "hgvsWellDefined": "NP_861463.1:p.Phe224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645421497",
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "T",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1053T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Phe351Leu",
        "hgvsWellDefined": "NP_000209.2:p.Phe351Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1053T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1053T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Phe351Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Phe351Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}