{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1982893245",
  "communityStandardTitle": [
    "NM_005472.5(KCNE3):c.280G= (p.Val94=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205809",
        "rs": 786205809
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1863839642",
        "rs": 1863839642
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 74457284,
          "referenceAllele": "C",
          "start": 74457283
        }
      ],
      "hgvs": [
        "NC_000011.10:g.74457284C=",
        "CM000673.2:g.74457284C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 74168329,
          "referenceAllele": "C",
          "start": 74168328
        }
      ],
      "hgvs": [
        "NC_000011.9:g.74168329C=",
        "CM000673.1:g.74168329C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 73845977,
          "referenceAllele": "C",
          "start": 73845976
        }
      ],
      "hgvs": [
        "NC_000011.8:g.73845977C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15272,
          "referenceAllele": "G",
          "start": 15271
        }
      ],
      "hgvs": [
        "NG_011833.1:g.15272G=",
        "LRG_439:g.15272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "ENST00000310128.9:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310557.4:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310128.9:c.280G="
          },
          "RefSeq": {
            "hgvs": "NM_005472.5:c.280G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310557.4:p.Val94="
          },
          "RefSeq": {
            "hgvs": "NP_005463.1:p.Val94="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "ENST00000310128.8:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310557.4:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "ENST00000525550.1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433633.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "ENST00000532569.5:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431739.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829587752",
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "NM_005472.4:c.280G=",
        "LRG_439t1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005463.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_011544713.1:c.412G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543015.1:p.Val138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_011544713.2:c.412G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543015.1:p.Val138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_017017047.1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872536.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_017017048.1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872537.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_017017049.1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872538.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_017017051.2:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872540.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "XM_017017052.1:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872541.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829587752",
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006243",
      "geneNCBI_id": 10008,
      "geneSymbol": "KCNE3",
      "hgvs": [
        "NM_005472.5:c.280G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005463.1:p.Val94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310128.9:c.280G="
          },
          "RefSeq": {
            "hgvs": "NM_005472.5:c.280G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310557.4:p.Val94="
          },
          "RefSeq": {
            "hgvs": "NP_005463.1:p.Val94="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}