{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130114",
  "communityStandardTitle": [
    "NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17072[alleleid]",
        "alleleId": 17072,
        "preferredName": "NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2033",
        "RCV": [
          "RCV000002111",
          "RCV000030798"
        ],
        "variationId": 2033
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.61728948C>T?assembly=hg19",
        "id": "chr8:g.61728948C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.60816389C>T?assembly=hg38",
        "id": "chr8:g.60816389C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434344",
        "rs": 121434344
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 60816389,
          "referenceAllele": "C",
          "start": 60816388
        }
      ],
      "hgvs": [
        "NC_000008.11:g.60816389C>T",
        "CM000670.2:g.60816389C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 61728948,
          "referenceAllele": "C",
          "start": 61728947
        }
      ],
      "hgvs": [
        "NC_000008.10:g.61728948C>T",
        "CM000670.1:g.61728948C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 61891502,
          "referenceAllele": "C",
          "start": 61891501
        }
      ],
      "hgvs": [
        "NC_000008.9:g.61891502C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142610,
          "referenceAllele": "C",
          "start": 142609
        }
      ],
      "hgvs": [
        "NG_007009.1:g.142610C>T",
        "LRG_176:g.142610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695853.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512218.1:p.Ser834Phe",
        "hgvsWellDefined": "ENSP00000512218.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3018,
          "referenceAllele": "C",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.7:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Ser834Phe",
        "hgvsWellDefined": "ENSP00000392028.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.2501C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.2501C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Ser834Phe"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Ser834Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2980,
          "referenceAllele": "C",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.6:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Ser834Phe",
        "hgvsWellDefined": "ENSP00000392028.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "endIntronDirection": "+",
          "endIntronOffset": 35339,
          "referenceAllele": "C",
          "start": 1784,
          "startIntronDirection": "+",
          "startIntronOffset": 35338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000524602.5:c.1716+35339C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437061.1:n.1716+35339C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2501,
          "referenceAllele": "C",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000525508.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436027.1:p.Ser834Phe",
        "hgvsWellDefined": "ENSP00000436027.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1890,
          "endIntronDirection": "+",
          "endIntronOffset": 35339,
          "referenceAllele": "C",
          "start": 1890,
          "startIntronDirection": "+",
          "startIntronOffset": 35338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_001316690.1:c.1716+35339C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303619.1:n.1716+35339C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101760",
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.3:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Ser834Phe",
        "hgvsWellDefined": "NP_060250.2:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "C",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515855.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2903,
          "referenceAllele": "C",
          "start": 2902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515856.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "C",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515857.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "C",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517556.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515858.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515858.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517557.1:c.488C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515859.1:p.Ser163Phe",
        "hgvsWellDefined": "XP_011515859.1:p.Ser163Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517558.1:c.38C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515860.1:p.Ser13Phe",
        "hgvsWellDefined": "XP_011515860.1:p.Ser13Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "C",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515862.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.2:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515855.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.3:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515856.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.2:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515857.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517560.2:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515862.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_011515862.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3068,
          "referenceAllele": "C",
          "start": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013612.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869101.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_016869101.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013613.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869102.1:p.Ser834Phe",
        "hgvsWellDefined": "XP_016869102.1:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101760",
      "coordinates": [
        {
          "allele": "T",
          "end": 3018,
          "referenceAllele": "C",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.4:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Ser834Phe",
        "hgvsWellDefined": "NP_060250.2:p.Ser834Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.2501C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.2501C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Ser834Phe"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Ser834Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}