{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041191",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.1480+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357645[alleleid]",
        "alleleId": 357645,
        "preferredName": "NM_019098.5(CNGB3):c.1480+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370865",
        "RCV": [
          "RCV000412081",
          "RCV001723969"
        ],
        "variationId": 370865
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87641146C>T?assembly=hg19",
        "id": "chr8:g.87641146C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86628918C>T?assembly=hg38",
        "id": "chr8:g.86628918C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516825",
        "rs": 1057516825
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-86628918-C-T?dataset=gnomad_r4",
        "id": "8-86628918-C-T",
        "variant": "8:86628918 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 86628918,
          "referenceAllele": "C",
          "start": 86628917
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86628918C>T",
        "CM000670.2:g.86628918C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87641146,
          "referenceAllele": "C",
          "start": 87641145
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87641146C>T",
        "CM000670.1:g.87641146C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 87710262,
          "referenceAllele": "C",
          "start": 87710261
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87710262C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119758,
          "referenceAllele": "G",
          "start": 119757
        }
      ],
      "hgvs": [
        "NG_016980.1:g.119758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1487,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.1480+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:n.1480+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.1480+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.1480+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:n.1480+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:n.1480+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1300,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681546.1:n.1300+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.1480+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:n.1480+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.1480+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:n.1480+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.1480+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:n.1480+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.1:c.1066+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.1066+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "XM_011517138.2:c.1066+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515440.1:n.1066+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1487,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1487,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.1480+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:n.1480+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.1480+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.1480+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:n.1480+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:n.1480+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}