{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2187187930",
  "communityStandardTitle": [
    "NM_005477.3(HCN4):c.2804C= (p.Ser935=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775803239",
        "rs": 775803239
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 73323289,
          "referenceAllele": "G",
          "start": 73323288
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73323289G=",
        "CM000677.2:g.73323289G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 73615630,
          "referenceAllele": "G",
          "start": 73615629
        }
      ],
      "hgvs": [
        "NC_000015.9:g.73615630G=",
        "CM000677.1:g.73615630G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 71402683,
          "referenceAllele": "G",
          "start": 71402682
        }
      ],
      "hgvs": [
        "NC_000015.8:g.71402683G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50976,
          "referenceAllele": "C",
          "start": 50975
        }
      ],
      "hgvs": [
        "NG_009063.1:g.50976C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001405"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3492,
          "referenceAllele": "C",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.4:c.2804C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Ser935="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.2804C="
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.2804C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Ser935="
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Ser935="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3798,
          "referenceAllele": "C",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.3:c.2804C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Ser935="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082181846",
      "coordinates": [
        {
          "allele": "C",
          "end": 3798,
          "referenceAllele": "C",
          "start": 3797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.2:c.2804C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Ser935="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.1:c.1586C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Ser529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.2:c.1586C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Ser529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082181846",
      "coordinates": [
        {
          "allele": "C",
          "end": 3492,
          "referenceAllele": "C",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.3:c.2804C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Ser935="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.2804C="
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.2804C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Ser935="
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Ser935="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}