{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006476",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77955[alleleid]",
        "alleleId": 77955,
        "preferredName": "NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67059",
        "RCV": [
          "RCV000057643",
          "RCV000148559",
          "RCV000182235",
          "RCV000755676",
          "RCV000825351",
          "RCV001841678",
          "RCV004018995"
        ],
        "variationId": 67059
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-2869033-G-A",
        "id": "11-2869033-G-A",
        "variant": "11:2869033 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2869033G>A?assembly=hg19",
        "id": "chr11:g.2869033G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2847803G>A?assembly=hg38",
        "id": "chr11:g.2847803G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147445322",
        "rs": 147445322
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2869033-G-A?dataset=gnomad_r2_1",
        "id": "11-2869033-G-A",
        "variant": "11:2869033 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2847803-G-A?dataset=gnomad_r3",
        "id": "11-2847803-G-A",
        "variant": "11:2847803 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2847803-G-A?dataset=gnomad_r4",
        "id": "11-2847803-G-A",
        "variant": "11:2847803 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2847803,
          "referenceAllele": "G",
          "start": 2847802
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2847803G>A",
        "CM000673.2:g.2847803G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2869033,
          "referenceAllele": "G",
          "start": 2869032
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2869033G>A",
        "CM000673.1:g.2869033G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2825609,
          "referenceAllele": "G",
          "start": 2825608
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2825609G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407813,
          "referenceAllele": "G",
          "start": 407812
        }
      ],
      "hgvs": [
        "NG_008935.1:g.407813G>A",
        "LRG_287:g.407813G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1474G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Asp492Asn",
        "hgvsWellDefined": "ENSP00000434560.2:p.Asp492Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1831G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Asp611Asn",
        "hgvsWellDefined": "ENSP00000155840.2:p.Asp611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1831G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1831G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Asp611Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Asp611Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Asp484Asn",
        "hgvsWellDefined": "ENSP00000334497.5:p.Asp484Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494939.1:p.Asp79Asn",
        "hgvsWellDefined": "ENSP00000494939.1:p.Asp79Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1831G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Asp611Asn",
        "hgvsWellDefined": "ENSP00000155840.2:p.Asp611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Asp484Asn",
        "hgvsWellDefined": "ENSP00000334497.5:p.Asp484Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000526095.1:n.338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211565",
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1831G>A",
        "LRG_287t1:c.1831G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Asp611Asn",
        "hgvsWellDefined": "NP_000209.2:p.Asp611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211564",
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1450G>A",
        "LRG_287t2:c.1450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Asp484Asn",
        "hgvsWellDefined": "NP_861463.1:p.Asp484Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 7360,
          "referenceAllele": "C",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 7361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042790",
      "geneNCBI_id": 338653,
      "geneSymbol": "KCNQ1-AS1",
      "hgvs": [
        "NR_130721.1:n.778-7361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA211565",
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1831G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Asp611Asn",
        "hgvsWellDefined": "NP_000209.2:p.Asp611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1831G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1831G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Asp611Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Asp611Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}