{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA036922",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.387-7C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327103[alleleid]",
        "alleleId": 327103,
        "preferredName": "NM_000218.3(KCNQ1):c.387-7C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/304216",
        "RCV": [
          "RCV000302203",
          "RCV000305874",
          "RCV000360571",
          "RCV000394457",
          "RCV000399547",
          "RCV001093927",
          "RCV001843044",
          "RCV001718615"
        ],
        "variationId": 304216
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2549151-C-T",
        "id": "11-2549151-C-T",
        "variant": "11:2549151 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2549151C>T?assembly=hg19",
        "id": "chr11:g.2549151C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2527921C>T?assembly=hg38",
        "id": "chr11:g.2527921C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201682200",
        "rs": 201682200
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2549151-C-T?dataset=gnomad_r2_1",
        "id": "11-2549151-C-T",
        "variant": "11:2549151 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2527921-C-T?dataset=gnomad_r3",
        "id": "11-2527921-C-T",
        "variant": "11:2527921 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2527921-C-T?dataset=gnomad_r4",
        "id": "11-2527921-C-T",
        "variant": "11:2527921 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2527921,
          "referenceAllele": "C",
          "start": 2527920
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2527921C>T",
        "CM000673.2:g.2527921C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2549151,
          "referenceAllele": "C",
          "start": 2549150
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2549151C>T",
        "CM000673.1:g.2549151C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 2505727,
          "referenceAllele": "C",
          "start": 2505726
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2505727C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87931,
          "referenceAllele": "C",
          "start": 87930
        }
      ],
      "hgvs": [
        "NG_008935.1:g.87931C>T",
        "LRG_287:g.87931C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000380776.5:n.184-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.126-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:n.126-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.387-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.387-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.387-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:n.387-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.387-7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.387-7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:n.387-7C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:n.387-7C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 274,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.6-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:n.6-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 32,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.33-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.33-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.387-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:n.387-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.6-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:n.6-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000345015.4:n.256-7C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000380776.4:c.177-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370153.4:n.177-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.6:c.126-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.1:n.126-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 494,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.387-7C>T",
        "LRG_287t1:c.387-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:n.387-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.6-7C>T",
        "LRG_287t2:c.6-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:n.6-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.387-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:n.387-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.387-7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.387-7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:n.387-7C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:n.387-7C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}