{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4800185",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.991-3T>C"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-87656917-A-G",
        "id": "8-87656917-A-G",
        "variant": "8:87656917 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87656917A>G?assembly=hg19",
        "id": "chr8:g.87656917A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86644689A>G?assembly=hg38",
        "id": "chr8:g.86644689A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773372519",
        "rs": 773372519
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-87656917-A-G?dataset=gnomad_r2_1",
        "id": "8-87656917-A-G",
        "variant": "8:87656917 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86644689-A-G?dataset=gnomad_r3",
        "id": "8-86644689-A-G",
        "variant": "8:86644689 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86644689-A-G?dataset=gnomad_r4",
        "id": "8-86644689-A-G",
        "variant": "8:86644689 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 86644689,
          "referenceAllele": "A",
          "start": 86644688
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86644689A>G",
        "CM000670.2:g.86644689A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 87656917,
          "referenceAllele": "A",
          "start": 87656916
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87656917A>G",
        "CM000670.1:g.87656917A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 87726033,
          "referenceAllele": "A",
          "start": 87726032
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87726033A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103987,
          "referenceAllele": "T",
          "start": 103986
        }
      ],
      "hgvs": [
        "NG_016980.1:g.103987T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.991-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:n.991-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.991-3T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.991-3T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:n.991-3T>C"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:n.991-3T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681546.1:n.811-3T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.991-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:n.991-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.991-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:n.991-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.991-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:n.991-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.1:c.577-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.577-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.2:c.577-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.577-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.991-3T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:n.991-3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.991-3T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.991-3T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:n.991-3T>C"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:n.991-3T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}