{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12051803",
  "communityStandardTitle": [
    "NM_021072.4(HCN1):c.1618+17949T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.45285752A>G?assembly=hg19",
        "id": "chr5:g.45285752A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.45285650A>G?assembly=hg38",
        "id": "chr5:g.45285650A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16902086",
        "rs": 16902086
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-45285752-A-G?dataset=gnomad_r2_1",
        "id": "5-45285752-A-G",
        "variant": "5:45285752 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-45285650-A-G?dataset=gnomad_r3",
        "id": "5-45285650-A-G",
        "variant": "5:45285650 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-45285650-A-G?dataset=gnomad_r4",
        "id": "5-45285650-A-G",
        "variant": "5:45285650 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 45285650,
          "referenceAllele": "A",
          "start": 45285649
        }
      ],
      "hgvs": [
        "NC_000005.10:g.45285650A>G",
        "CM000667.2:g.45285650A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 45285752,
          "referenceAllele": "A",
          "start": 45285751
        }
      ],
      "hgvs": [
        "NC_000005.9:g.45285752A>G",
        "CM000667.1:g.45285752A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 45321509,
          "referenceAllele": "A",
          "start": 45321508
        }
      ],
      "hgvs": [
        "NC_000005.8:g.45321509A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415469,
          "referenceAllele": "T",
          "start": 415468
        }
      ],
      "hgvs": [
        "NG_042183.1:g.415469T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000303230.6:c.1618+17949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307342.4:n.1618+17949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303230.6:c.1618+17949T>C"
          },
          "RefSeq": {
            "hgvs": "NM_021072.4:c.1618+17949T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307342.4:n.1618+17949T>C"
          },
          "RefSeq": {
            "hgvs": "NP_066550.2:n.1618+17949T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000637305.1:n.781+17949T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000673735.1:c.1618+17949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501107.1:n.1618+17949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1859,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 1859,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "ENST00000303230.5:c.1618+17949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307342.4:n.1618+17949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 1643,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "NM_021072.3:c.1618+17949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066550.2:n.1618+17949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "endIntronDirection": "+",
          "endIntronOffset": 17949,
          "referenceAllele": "T",
          "start": 1905,
          "startIntronDirection": "+",
          "startIntronOffset": 17948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "NM_021072.4:c.1618+17949T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066550.2:n.1618+17949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303230.6:c.1618+17949T>C"
          },
          "RefSeq": {
            "hgvs": "NM_021072.4:c.1618+17949T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307342.4:n.1618+17949T>C"
          },
          "RefSeq": {
            "hgvs": "NP_066550.2:n.1618+17949T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}