{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7090527",
  "communityStandardTitle": [
    "NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1968587[alleleid]",
        "alleleId": 1968587,
        "preferredName": "NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1919602",
        "RCV": [
          "RCV002630338"
        ],
        "variationId": 1919602
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-21853928-C-T",
        "id": "14-21853928-C-T",
        "variant": "14:21853928 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21853928C>T?assembly=hg19",
        "id": "chr14:g.21853928C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21385769C>T?assembly=hg38",
        "id": "chr14:g.21385769C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371759126",
        "rs": 371759126
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21853928-C-T?dataset=gnomad_r2_1",
        "id": "14-21853928-C-T",
        "variant": "14:21853928 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21385769-C-T?dataset=gnomad_r3",
        "id": "14-21385769-C-T",
        "variant": "14:21385769 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21385769-C-T?dataset=gnomad_r4",
        "id": "14-21385769-C-T",
        "variant": "14:21385769 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21385769,
          "referenceAllele": "C",
          "start": 21385768
        }
      ],
      "hgvs": [
        "NC_000014.9:g.21385769C>T",
        "CM000676.2:g.21385769C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21853928,
          "referenceAllele": "C",
          "start": 21853927
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21853928C>T",
        "CM000676.1:g.21853928C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 20923768,
          "referenceAllele": "C",
          "start": 20923767
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20923768C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "referenceAllele": "G",
          "start": 3497
        }
      ],
      "hgvs": [
        "NG_009932.1:g.3498G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56530,
          "referenceAllele": "G",
          "start": 56529
        }
      ],
      "hgvs": [
        "NG_021249.1:g.56530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003511"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6847,
          "referenceAllele": "G",
          "start": 6846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000430710.8:c.6753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406288.3:p.Arg2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000553870.2:c.962G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5290,
          "referenceAllele": "G",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000555935.2:c.5290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7888,
          "referenceAllele": "G",
          "start": 7887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000557364.6:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451601.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7985,
          "referenceAllele": "G",
          "start": 7984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000643469.1:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495070.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6746,
          "referenceAllele": "G",
          "start": 6745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000645206.1:n.6746G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6854,
          "referenceAllele": "G",
          "start": 6853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000645929.1:c.6753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494402.1:p.Arg2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7897,
          "referenceAllele": "G",
          "start": 7896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000646647.2:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495240.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646647.2:c.7590G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001170629.2:c.7590G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495240.1:p.Arg2530="
          },
          "RefSeq": {
            "hgvs": "NP_001164100.1:p.Arg2530="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7655,
          "referenceAllele": "G",
          "start": 7654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000399982.6:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382863.2:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6845,
          "referenceAllele": "G",
          "start": 6844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000430710.7:c.6753G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406288.3:p.Arg2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7854,
          "referenceAllele": "G",
          "start": 7853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000557364.5:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451601.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "ENST00000557727.1:n.576G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826068843",
      "coordinates": [
        {
          "allele": "A",
          "end": 7655,
          "referenceAllele": "G",
          "start": 7654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_001170629.1:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164100.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829937231",
      "coordinates": [
        {
          "allele": "A",
          "end": 6900,
          "referenceAllele": "G",
          "start": 6899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_020920.3:c.6753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065971.2:p.Arg2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "endIntronDirection": "+",
          "endIntronOffset": 1056,
          "referenceAllele": "C",
          "start": 621,
          "startIntronDirection": "+",
          "startIntronOffset": 1055
        }
      ],
      "hgvs": [
        "XR_001750627.1:n.621+1056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826068843",
      "coordinates": [
        {
          "allele": "A",
          "end": 7897,
          "referenceAllele": "G",
          "start": 7896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_001170629.2:c.7590G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164100.1:p.Arg2530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646647.2:c.7590G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001170629.2:c.7590G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495240.1:p.Arg2530="
          },
          "RefSeq": {
            "hgvs": "NP_001164100.1:p.Arg2530="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829937231",
      "coordinates": [
        {
          "allele": "A",
          "end": 6877,
          "referenceAllele": "G",
          "start": 6876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_020920.4:c.6753G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065971.2:p.Arg2251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698332"
    }
  ],
  "type": "nucleotide"
}