{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13496328",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.386+32464G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1631872[alleleid]",
        "alleleId": 1631872,
        "preferredName": "NM_000218.3(KCNQ1):c.386+32464G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1600312",
        "RCV": [
          "RCV002132262"
        ],
        "variationId": 1600312
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2499178G>A?assembly=hg19",
        "id": "chr11:g.2499178G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2477948G>A?assembly=hg38",
        "id": "chr11:g.2477948G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757092",
        "rs": 757092
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2499178-G-A?dataset=gnomad_r2_1",
        "id": "11-2499178-G-A",
        "variant": "11:2499178 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2477948-G-A?dataset=gnomad_r3",
        "id": "11-2477948-G-A",
        "variant": "11:2477948 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2477948-G-A?dataset=gnomad_r4",
        "id": "11-2477948-G-A",
        "variant": "11:2477948 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2477948,
          "referenceAllele": "G",
          "start": 2477947
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2477948G>A",
        "CM000673.2:g.2477948G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2499178,
          "referenceAllele": "G",
          "start": 2499177
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2499178G>A",
        "CM000673.1:g.2499178G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2455754,
          "referenceAllele": "G",
          "start": 2455753
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2455754G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37958,
          "referenceAllele": "G",
          "start": 37957
        }
      ],
      "hgvs": [
        "NG_008935.1:g.37958G>A",
        "LRG_287:g.37958G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "+",
          "endIntronOffset": 15971,
          "referenceAllele": "G",
          "start": 91,
          "startIntronDirection": "+",
          "startIntronOffset": 15970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000380776.5:n.91+15971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.125+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:n.125+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.386+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.386+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.386+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:n.386+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.386+32464G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.386+32464G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:n.386+32464G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:n.386+32464G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 16234,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 16233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.5+16234G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:n.5+16234G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 32,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.32+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.32+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 494,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.386+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:n.386+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 16234,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 16233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.5+16234G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:n.5+16234G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000345015.4:n.163+32464G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "+",
          "endIntronOffset": 15971,
          "referenceAllele": "G",
          "start": 91,
          "startIntronDirection": "+",
          "startIntronOffset": 15970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000380776.4:c.84+15971G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370153.4:n.84+15971G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.6:c.125+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.1:n.125+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 494,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.386+32464G>A",
        "LRG_287t1:c.386+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:n.386+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "endIntronDirection": "+",
          "endIntronOffset": 16234,
          "referenceAllele": "G",
          "start": 261,
          "startIntronDirection": "+",
          "startIntronOffset": 16233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.5+16234G>A",
        "LRG_287t2:c.5+16234G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:n.5+16234G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 32464,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 32463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.386+32464G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:n.386+32464G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.386+32464G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.386+32464G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:n.386+32464G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:n.386+32464G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}