{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254822",
  "communityStandardTitle": [
    "NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24516[alleleid]",
        "alleleId": 24516,
        "preferredName": "NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9477",
        "RCV": [
          "RCV000010085",
          "RCV001075211"
        ],
        "variationId": 9477
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.99012505C>G?assembly=hg19",
        "id": "chr2:g.99012505C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.98396042C>G?assembly=hg38",
        "id": "chr2:g.98396042C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893616",
        "rs": 104893616
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-98396042-C-G?dataset=gnomad_r4",
        "id": "2-98396042-C-G",
        "variant": "2:98396042 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 98396042,
          "referenceAllele": "C",
          "start": 98396041
        }
      ],
      "hgvs": [
        "NC_000002.12:g.98396042C>G",
        "CM000664.2:g.98396042C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 99012505,
          "referenceAllele": "C",
          "start": 99012504
        }
      ],
      "hgvs": [
        "NC_000002.11:g.99012505C>G",
        "CM000664.1:g.99012505C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 98378937,
          "referenceAllele": "C",
          "start": 98378936
        }
      ],
      "hgvs": [
        "NC_000002.10:g.98378937C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54888,
          "referenceAllele": "C",
          "start": 54887
        }
      ],
      "hgvs": [
        "NG_009097.1:g.54888C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001430"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.7:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Thr291Arg",
        "hgvsWellDefined": "ENSP00000272602.2:p.Thr291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.872C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.872C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Thr291Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Thr291Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000272602.6:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272602.2:p.Thr291Arg",
        "hgvsWellDefined": "ENSP00000272602.2:p.Thr291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000393504.5:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377140.1:p.Thr291Arg",
        "hgvsWellDefined": "ENSP00000377140.1:p.Thr291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000409937.1:c.884C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386761.1:p.Thr295Arg",
        "hgvsWellDefined": "ENSP00000386761.1:p.Thr295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "ENST00000436404.6:c.818C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410070.2:p.Thr273Arg",
        "hgvsWellDefined": "ENSP00000410070.2:p.Thr273Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460968",
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.1:c.818C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Thr273Arg",
        "hgvsWellDefined": "NP_001073347.1:p.Thr273Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093970",
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Thr291Arg",
        "hgvsWellDefined": "NP_001289.1:p.Thr291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_006712243.2:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712306.1:p.Thr328Arg",
        "hgvsWellDefined": "XP_006712306.1:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.1:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Thr346Arg",
        "hgvsWellDefined": "XP_011508856.1:p.Thr346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "XM_011510554.2:c.1037C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508856.1:p.Thr346Arg",
        "hgvsWellDefined": "XP_011508856.1:p.Thr346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460968",
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001079878.2:c.818C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073347.1:p.Thr273Arg",
        "hgvsWellDefined": "NP_001073347.1:p.Thr273Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093970",
      "coordinates": [
        {
          "allele": "G",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002150",
      "geneNCBI_id": 1261,
      "geneSymbol": "CNGA3",
      "hgvs": [
        "NM_001298.3:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289.1:p.Thr291Arg",
        "hgvsWellDefined": "NP_001289.1:p.Thr291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272602.7:c.872C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001298.3:c.872C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272602.2:p.Thr291Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001289.1:p.Thr291Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}