{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367696458",
  "communityStandardTitle": [
    "NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323512[alleleid]",
        "alleleId": 1323512,
        "preferredName": "NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332794",
        "RCV": [
          "RCV001806368"
        ],
        "variationId": 1332794
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66103383G>C?assembly=hg19",
        "id": "chr7:g.66103383G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66638396G>C?assembly=hg38",
        "id": "chr7:g.66638396G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765235486",
        "rs": 765235486
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66103383-G-C?dataset=gnomad_r2_1",
        "id": "7-66103383-G-C",
        "variant": "7:66103383 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-66638396-G-C?dataset=gnomad_r4",
        "id": "7-66638396-G-C",
        "variant": "7:66638396 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66638396,
          "referenceAllele": "G",
          "start": 66638395
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66638396G>C",
        "CM000669.2:g.66638396G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66103383,
          "referenceAllele": "G",
          "start": 66103382
        }
      ],
      "hgvs": [
        "NC_000007.13:g.66103383G>C",
        "CM000669.1:g.66103383G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65740818,
          "referenceAllele": "G",
          "start": 65740817
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65740818G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14516,
          "referenceAllele": "G",
          "start": 14515
        }
      ],
      "hgvs": [
        "NG_028110.1:g.14516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14516,
          "referenceAllele": "G",
          "start": 14515
        }
      ],
      "hgvs": [
        "NG_028110.2:g.14516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673759"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 633,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000275532.8:c.453+5G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275532.4:n.453+5G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000449064.6:c.431+5G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "hgvs": [
        "ENST00000503687.2:c.288G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421074.1:p.Ala96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000638524.1:c.283G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000638540.1:c.262G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000639828.2:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492240.1:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000492240.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639828.2:c.458G>C"
          },
          "RefSeq": {
            "hgvs": "NM_153033.5:c.458G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492240.1:p.Arg153Pro"
          },
          "RefSeq": {
            "hgvs": "NP_694578.1:p.Arg153Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000639879.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492161.1:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000492161.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "G",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640234.1:c.328G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640385.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491193.1:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000491193.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000640851.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492577.1:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000492577.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000275532.7:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275532.3:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000275532.3:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000443322.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411624.1:p.Arg153Pro",
        "hgvsWellDefined": "ENSP00000411624.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000449064.5:c.288G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388463.1:p.Ala96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "ENST00000503687.1:c.288G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421074.1:p.Ala96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051932",
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_001167961.2:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161433.1:p.Arg153Pro",
        "hgvsWellDefined": "NP_001161433.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573099512",
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_153033.4:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694578.1:p.Arg153Pro",
        "hgvsWellDefined": "NP_694578.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573099512",
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NM_153033.5:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_694578.1:p.Arg153Pro",
        "hgvsWellDefined": "NP_694578.1:p.Arg153Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729447",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639828.2:c.458G>C"
          },
          "RefSeq": {
            "hgvs": "NM_153033.5:c.458G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492240.1:p.Arg153Pro"
          },
          "RefSeq": {
            "hgvs": "NP_694578.1:p.Arg153Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}