{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117313",
  "communityStandardTitle": [
    "NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20215[alleleid]",
        "alleleId": 20215,
        "preferredName": "NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5176",
        "RCV": [
          "RCV000005484"
        ],
        "variationId": 5176
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.73622066C>G?assembly=hg19",
        "id": "chr15:g.73622066C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.73329725C>G?assembly=hg38",
        "id": "chr15:g.73329725C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908411",
        "rs": 121908411
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 73329725,
          "referenceAllele": "C",
          "start": 73329724
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73329725C>G",
        "CM000677.2:g.73329725C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 73622066,
          "referenceAllele": "C",
          "start": 73622065
        }
      ],
      "hgvs": [
        "NC_000015.9:g.73622066C>G",
        "CM000677.1:g.73622066C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 71409119,
          "referenceAllele": "C",
          "start": 71409118
        }
      ],
      "hgvs": [
        "NC_000015.8:g.71409119C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44540,
          "referenceAllele": "G",
          "start": 44539
        }
      ],
      "hgvs": [
        "NG_009063.1:g.44540G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001405"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.4:c.1438G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Gly480Arg",
        "hgvsWellDefined": "ENSP00000261917.3:p.Gly480Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1438G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1438G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Gly480Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Gly480Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.3:c.1438G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Gly480Arg",
        "hgvsWellDefined": "ENSP00000261917.3:p.Gly480Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117314",
      "coordinates": [
        {
          "allele": "C",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.2:c.1438G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Gly480Arg",
        "hgvsWellDefined": "NP_005468.1:p.Gly480Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.1:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Gly74Arg",
        "hgvsWellDefined": "XP_011519450.1:p.Gly74Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.2:c.220G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Gly74Arg",
        "hgvsWellDefined": "XP_011519450.1:p.Gly74Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117314",
      "coordinates": [
        {
          "allele": "C",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.3:c.1438G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Gly480Arg",
        "hgvsWellDefined": "NP_005468.1:p.Gly480Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1438G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1438G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Gly480Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Gly480Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}