{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8814047",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2803011",
        "active": true,
        "id": "COSM2803011"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2803012",
        "active": true,
        "id": "COSM2803012"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330407[alleleid]",
        "alleleId": 330407,
        "preferredName": "NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325737",
        "RCV": [
          "RCV000340743",
          "RCV001492204"
        ],
        "variationId": 325737
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78055765-C-T",
        "id": "17-78055765-C-T",
        "variant": "17:78055765 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78055765C>T?assembly=hg19",
        "id": "chr17:g.78055765C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80081966C>T?assembly=hg38",
        "id": "chr17:g.80081966C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200551690",
        "rs": 200551690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78055765-C-T?dataset=gnomad_r2_1",
        "id": "17-78055765-C-T",
        "variant": "17:78055765 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80081966-C-T?dataset=gnomad_r3",
        "id": "17-80081966-C-T",
        "variant": "17:80081966 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80081966-C-T?dataset=gnomad_r4",
        "id": "17-80081966-C-T",
        "variant": "17:80081966 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80081966,
          "referenceAllele": "C",
          "start": 80081965
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80081966C>T",
        "CM000679.2:g.80081966C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78055765,
          "referenceAllele": "C",
          "start": 78055764
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78055765C>T",
        "CM000679.1:g.78055765C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75670360,
          "referenceAllele": "C",
          "start": 75670359
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75670360C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50335,
          "referenceAllele": "C",
          "start": 50334
        }
      ],
      "hgvs": [
        "NG_029761.1:g.50335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Arg633Trp",
        "hgvsWellDefined": "ENSP00000380679.4:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.1897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.1897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Arg633Trp"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Arg633Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000374877.7:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364011.3:p.Arg633Trp",
        "hgvsWellDefined": "ENSP00000364011.3:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1924,
          "referenceAllele": "C",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Arg633Trp",
        "hgvsWellDefined": "ENSP00000380679.4:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000572253.5:n.524C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.1434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327187",
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.1:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Arg633Trp",
        "hgvsWellDefined": "NP_001230271.1:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424960",
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Arg633Trp",
        "hgvsWellDefined": "NP_060420.2:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Arg603Trp",
        "hgvsWellDefined": "XP_011523265.1:p.Arg603Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Arg240Trp",
        "hgvsWellDefined": "XP_011523266.1:p.Arg240Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.1:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Arg633Trp",
        "hgvsWellDefined": "XP_011523267.1:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.1:n.1928C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Arg603Trp",
        "hgvsWellDefined": "XP_011523265.1:p.Arg603Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Arg240Trp",
        "hgvsWellDefined": "XP_011523266.1:p.Arg240Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.3:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Arg633Trp",
        "hgvsWellDefined": "XP_011523267.1:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_017024807.1:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880296.1:p.Arg633Trp",
        "hgvsWellDefined": "XP_016880296.1:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2491,
          "referenceAllele": "C",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.1807C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Arg603Trp",
        "hgvsWellDefined": "XP_024306589.1:p.Arg603Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_001752550.2:n.1928C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.1928C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424960",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Arg633Trp",
        "hgvsWellDefined": "NP_060420.2:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.1897C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.1897C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Arg633Trp"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Arg633Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327187",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.1897C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Arg633Trp",
        "hgvsWellDefined": "NP_001230271.1:p.Arg633Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}