{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA033794",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=911656[alleleid]",
        "alleleId": 911656,
        "preferredName": "NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/927553",
        "RCV": [
          "RCV001228890",
          "RCV001841126",
          "RCV002411719",
          "RCV002484042"
        ],
        "variationId": 927553
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2869138-G-A",
        "id": "11-2869138-G-A",
        "variant": "11:2869138 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2869138G>A?assembly=hg19",
        "id": "chr11:g.2869138G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2847908G>A?assembly=hg38",
        "id": "chr11:g.2847908G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763478809",
        "rs": 763478809
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2869138-G-A?dataset=gnomad_r2_1",
        "id": "11-2869138-G-A",
        "variant": "11:2869138 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2847908-G-A?dataset=gnomad_r3",
        "id": "11-2847908-G-A",
        "variant": "11:2847908 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2847908-G-A?dataset=gnomad_r4",
        "id": "11-2847908-G-A",
        "variant": "11:2847908 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2847908,
          "referenceAllele": "G",
          "start": 2847907
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2847908G>A",
        "CM000673.2:g.2847908G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2869138,
          "referenceAllele": "G",
          "start": 2869137
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2869138G>A",
        "CM000673.1:g.2869138G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2825714,
          "referenceAllele": "G",
          "start": 2825713
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2825714G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407918,
          "referenceAllele": "G",
          "start": 407917
        }
      ],
      "hgvs": [
        "NG_008935.1:g.407918G>A",
        "LRG_287:g.407918G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1579G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Gly527Ser",
        "hgvsWellDefined": "ENSP00000434560.2:p.Gly527Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2027,
          "referenceAllele": "G",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1936G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Gly646Ser",
        "hgvsWellDefined": "ENSP00000155840.2:p.Gly646Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1936G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1936G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Gly646Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Gly646Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "G",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Gly519Ser",
        "hgvsWellDefined": "ENSP00000334497.5:p.Gly519Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.2:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494939.1:p.Gly114Ser",
        "hgvsWellDefined": "ENSP00000494939.1:p.Gly114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1936G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Gly646Ser",
        "hgvsWellDefined": "ENSP00000155840.2:p.Gly646Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "referenceAllele": "G",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Gly519Ser",
        "hgvsWellDefined": "ENSP00000334497.5:p.Gly519Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.1:n.443G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669731",
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1936G>A",
        "LRG_287t1:c.1936G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Gly646Ser",
        "hgvsWellDefined": "NP_000209.2:p.Gly646Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830390954",
      "coordinates": [
        {
          "allele": "A",
          "end": 1811,
          "referenceAllele": "G",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1555G>A",
        "LRG_287t2:c.1555G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Gly519Ser",
        "hgvsWellDefined": "NP_861463.1:p.Gly519Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 7465,
          "referenceAllele": "C",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 7466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042790",
      "geneNCBI_id": 338653,
      "geneSymbol": "KCNQ1-AS1",
      "hgvs": [
        "NR_130721.1:n.778-7466C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669731",
      "coordinates": [
        {
          "allele": "A",
          "end": 2027,
          "referenceAllele": "G",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1936G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Gly646Ser",
        "hgvsWellDefined": "NP_000209.2:p.Gly646Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1936G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1936G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Gly646Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Gly646Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}