{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1788116319",
  "communityStandardTitle": [
    "NM_017780.4(CHD7):c.4507G= (p.Glu1503=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794248",
        "rs": 1064794248
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 60838229,
          "referenceAllele": "G",
          "start": 60838228
        }
      ],
      "hgvs": [
        "NC_000008.11:g.60838229G=",
        "CM000670.2:g.60838229G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 61750788,
          "referenceAllele": "G",
          "start": 61750787
        }
      ],
      "hgvs": [
        "NC_000008.10:g.61750788G=",
        "CM000670.1:g.61750788G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 61913342,
          "referenceAllele": "G",
          "start": 61913341
        }
      ],
      "hgvs": [
        "NC_000008.9:g.61913342G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164450,
          "referenceAllele": "G",
          "start": 164449
        }
      ],
      "hgvs": [
        "NG_007009.1:g.164450G=",
        "LRG_176:g.164450G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5020,
          "referenceAllele": "G",
          "start": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695853.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512218.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "G",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.7:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.4507G="
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.4507G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Glu1503="
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Glu1503="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4986,
          "referenceAllele": "G",
          "start": 4985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.6:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1784,
          "endIntronDirection": "-",
          "endIntronOffset": 23999,
          "referenceAllele": "G",
          "start": 1784,
          "startIntronDirection": "-",
          "startIntronOffset": 24000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000524602.5:c.1717-24000G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437061.1:n.1717-24000G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "endIntronDirection": "-",
          "endIntronOffset": 23999,
          "referenceAllele": "G",
          "start": 1890,
          "startIntronDirection": "-",
          "startIntronOffset": 24000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_001316690.1:c.1717-24000G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303619.1:n.1717-24000G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075062052",
      "coordinates": [
        {
          "allele": "G",
          "end": 4999,
          "referenceAllele": "G",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.3:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5002,
          "referenceAllele": "G",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4909,
          "referenceAllele": "G",
          "start": 4908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5002,
          "referenceAllele": "G",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5002,
          "referenceAllele": "G",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517556.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515858.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2759,
          "referenceAllele": "G",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517557.1:c.2494G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515859.1:p.Glu832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "G",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517558.1:c.2044G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515860.1:p.Glu682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517559.1:c.1252G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515861.1:p.Glu418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5002,
          "referenceAllele": "G",
          "start": 5001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5020,
          "referenceAllele": "G",
          "start": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.2:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4806,
          "referenceAllele": "G",
          "start": 4805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.3:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5020,
          "referenceAllele": "G",
          "start": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.2:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5020,
          "referenceAllele": "G",
          "start": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.2:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5074,
          "referenceAllele": "G",
          "start": 5073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013612.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869101.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5020,
          "referenceAllele": "G",
          "start": 5019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013613.1:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869102.1:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075062052",
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "G",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.4:c.4507G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Glu1503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.4507G="
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.4507G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Glu1503="
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Glu1503="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}