{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007717",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67745[alleleid]",
        "alleleId": 67745,
        "preferredName": "NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53077",
        "RCV": [
          "RCV000057718",
          "RCV000182091",
          "RCV000620936",
          "RCV001379267",
          "RCV002483052",
          "RCV003236664",
          "RCV003492374",
          "RCV003591645"
        ],
        "variationId": 53077
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2591984-G-A",
        "id": "11-2591984-G-A",
        "variant": "11:2591984 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2591984G>A?assembly=hg19",
        "id": "chr11:g.2591984G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2570754G>A?assembly=hg38",
        "id": "chr11:g.2570754G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199472702",
        "rs": 199472702
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2591984-G-A?dataset=gnomad_r2_1",
        "id": "11-2591984-G-A",
        "variant": "11:2591984 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2570754-G-A?dataset=gnomad_r3",
        "id": "11-2570754-G-A",
        "variant": "11:2570754 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2570754-G-A?dataset=gnomad_r4",
        "id": "11-2570754-G-A",
        "variant": "11:2570754 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2570754,
          "referenceAllele": "G",
          "start": 2570753
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2570754G>A",
        "CM000673.2:g.2570754G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2591984,
          "referenceAllele": "G",
          "start": 2591983
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2591984G>A",
        "CM000673.1:g.2591984G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2548560,
          "referenceAllele": "G",
          "start": 2548559
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2548560G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130764,
          "referenceAllele": "G",
          "start": 130763
        }
      ],
      "hgvs": [
        "NG_008935.1:g.130764G>A",
        "LRG_287:g.130764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Asp115Asn",
        "hgvsWellDefined": "ENSP00000434560.2:p.Asp115Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "endIntronDirection": "-",
          "endIntronOffset": 12680,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "-",
          "startIntronOffset": 12681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.478-12681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:n.478-12681G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Asp202Asn",
        "hgvsWellDefined": "ENSP00000155840.2:p.Asp202Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Asp202Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Asp202Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Asp75Asn",
        "hgvsWellDefined": "ENSP00000334497.5:p.Asp75Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 12680,
          "referenceAllele": "G",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 12681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.124-12681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:n.124-12681G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Asp202Asn",
        "hgvsWellDefined": "ENSP00000155840.2:p.Asp202Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Asp75Asn",
        "hgvsWellDefined": "ENSP00000334497.5:p.Asp75Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.6:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.1:p.Asp115Asn",
        "hgvsWellDefined": "ENSP00000434560.1:p.Asp115Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA305554",
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.604G>A",
        "LRG_287t1:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Asp202Asn",
        "hgvsWellDefined": "NP_000209.2:p.Asp202Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA305555",
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.223G>A",
        "LRG_287t2:c.223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Asp75Asn",
        "hgvsWellDefined": "NP_861463.1:p.Asp75Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA305554",
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Asp202Asn",
        "hgvsWellDefined": "NP_000209.2:p.Asp202Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Asp202Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Asp202Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}