{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347832267",
  "communityStandardTitle": [
    "NM_001298.3(CNGA3):c.848G>C (p.Arg283Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2052225[alleleid]",
        "alleleId": 2052225,
        "preferredName": "NM_001298.3(CNGA3):c.848G>C (p.Arg283Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2005461",
        "RCV": [
          "RCV002828538"
        ],
        "variationId": 2005461
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.99012481G>C?assembly=hg19",
        "id": "chr2:g.99012481G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.98396018G>C?assembly=hg38",
        "id": "chr2:g.98396018G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893614",
        "rs": 104893614
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 98396018,
          "referenceAllele": "G",
          "start": 98396017
        }
      ],
      "hgvs": [
        "NC_000002.12:g.98396018G>C",
        "CM000664.2:g.98396018G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 99012481,
          "referenceAllele": "G",
          "start": 99012480
        }
      ],
      "hgvs": [
        "NC_000002.11:g.99012481G>C",
        "CM000664.1:g.99012481G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 98378913,
          "referenceAllele": "G",
          "start": 98378912
        }
      ],
      "hgvs": [
        "NC_000002.10:g.98378913G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54864,
          "referenceAllele": "G",
          "start": 54863
        }
      ],
      "hgvs": [
        "NG_009097.1:g.54864G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001430"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.7:c.848G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Arg283Pro",
        "hgvsWellDefined": "ENSP00000272602.2:p.Arg283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.848G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.848G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Arg283Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Arg283Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.6:c.848G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Arg283Pro",
        "hgvsWellDefined": "ENSP00000272602.2:p.Arg283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000393504.5:c.848G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377140.1:p.Arg283Pro",
        "hgvsWellDefined": "ENSP00000377140.1:p.Arg283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000409937.1:c.860G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386761.1:p.Arg287Pro",
        "hgvsWellDefined": "ENSP00000386761.1:p.Arg287Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000436404.6:c.794G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410070.2:p.Arg265Pro",
        "hgvsWellDefined": "ENSP00000410070.2:p.Arg265Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460962",
      "coordinates": [
        {
          "allele": "C",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.1:c.794G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Arg265Pro",
        "hgvsWellDefined": "NP_001073347.1:p.Arg265Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580186217",
      "coordinates": [
        {
          "allele": "C",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.2:c.848G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Arg283Pro",
        "hgvsWellDefined": "NP_001289.1:p.Arg283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_006712243.2:c.959G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712306.1:p.Arg320Pro",
        "hgvsWellDefined": "XP_006712306.1:p.Arg320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.1:c.1013G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Arg338Pro",
        "hgvsWellDefined": "XP_011508856.1:p.Arg338Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "G",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.2:c.1013G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Arg338Pro",
        "hgvsWellDefined": "XP_011508856.1:p.Arg338Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460962",
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.2:c.794G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Arg265Pro",
        "hgvsWellDefined": "NP_001073347.1:p.Arg265Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580186217",
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.3:c.848G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Arg283Pro",
        "hgvsWellDefined": "NP_001289.1:p.Arg283Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.848G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.848G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Arg283Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Arg283Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}