{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232545",
  "communityStandardTitle": [
    "NM_153033.5(KCTD7):c.687T>C (p.Asp229=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3085866",
        "active": true,
        "id": "COSM3085866"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141757[alleleid]",
        "alleleId": 141757,
        "preferredName": "NM_153033.5(KCTD7):c.687T>C (p.Asp229=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138054",
        "RCV": [
          "RCV000186636",
          "RCV000724096",
          "RCV001089440",
          "RCV002312900"
        ],
        "variationId": 138054
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-66104036-T-C",
        "id": "7-66104036-T-C",
        "variant": "7:66104036 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66104036T>C?assembly=hg19",
        "id": "chr7:g.66104036T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66639049T>C?assembly=hg38",
        "id": "chr7:g.66639049T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372150992",
        "rs": 372150992
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66104036-T-C?dataset=gnomad_r2_1",
        "id": "7-66104036-T-C",
        "variant": "7:66104036 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66639049-T-C?dataset=gnomad_r3",
        "id": "7-66639049-T-C",
        "variant": "7:66639049 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66639049-T-C?dataset=gnomad_r4",
        "id": "7-66639049-T-C",
        "variant": "7:66639049 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66639049,
          "referenceAllele": "T",
          "start": 66639048
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66639049T>C",
        "CM000669.2:g.66639049T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66104036,
          "referenceAllele": "T",
          "start": 66104035
        }
      ],
      "hgvs": [
        "NC_000007.13:g.66104036T>C",
        "CM000669.1:g.66104036T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65741471,
          "referenceAllele": "T",
          "start": 65741470
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65741471T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15169,
          "referenceAllele": "T",
          "start": 15168
        }
      ],
      "hgvs": [
        "NG_028110.1:g.15169T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15169,
          "referenceAllele": "T",
          "start": 15168
        }
      ],
      "hgvs": [
        "NG_028110.2:g.15169T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673759"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000275532.8:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275532.4:p.Met216Thr",
        "hgvsWellDefined": "ENSP00000275532.4:p.Met216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "T",
          "start": 505,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000449064.6:c.505+120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "hgvs": [
        "ENST00000503687.2:c.397+120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421074.1:n.397+120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000638524.1:c.512T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000638540.1:c.491T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000639828.2:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492240.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639828.2:c.687T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153033.5:c.687T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492240.1:p.Asp229="
          },
          "RefSeq": {
            "hgvs": "NP_694578.1:p.Asp229="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "T",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000639879.1:c.*550T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492161.1:n.*550T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "T",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640234.1:c.437+120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "T",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640385.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491193.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "T",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640601.1:c.194T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "T",
          "start": 578,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640851.1:c.568-79T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492577.1:n.568-79T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000275532.7:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275532.3:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "T",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000443322.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411624.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "endIntronDirection": "+",
          "endIntronOffset": 120,
          "referenceAllele": "T",
          "start": 504,
          "startIntronDirection": "+",
          "startIntronOffset": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000503687.1:c.397+120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421074.1:n.397+120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051990",
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_001167961.2:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161433.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830308862",
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_153033.4:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694578.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830308862",
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_153033.5:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694578.1:p.Asp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729447",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639828.2:c.687T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153033.5:c.687T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492240.1:p.Asp229="
          },
          "RefSeq": {
            "hgvs": "NP_694578.1:p.Asp229="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}