{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8813733",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402628[alleleid]",
        "alleleId": 402628,
        "preferredName": "NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407773",
        "RCV": [
          "RCV000459225",
          "RCV001122109",
          "RCV003418174"
        ],
        "variationId": 407773
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78032320-A-T",
        "id": "17-78032320-A-T",
        "variant": "17:78032320 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78032320A>T?assembly=hg19",
        "id": "chr17:g.78032320A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80058521A>T?assembly=hg38",
        "id": "chr17:g.80058521A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200701665",
        "rs": 200701665
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78032320-A-T?dataset=gnomad_r2_1",
        "id": "17-78032320-A-T",
        "variant": "17:78032320 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80058521-A-T?dataset=gnomad_r3",
        "id": "17-80058521-A-T",
        "variant": "17:80058521 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80058521-A-T?dataset=gnomad_r4",
        "id": "17-80058521-A-T",
        "variant": "17:80058521 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80058521,
          "referenceAllele": "A",
          "start": 80058520
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80058521A>T",
        "CM000679.2:g.80058521A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78032320,
          "referenceAllele": "A",
          "start": 78032319
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78032320A>T",
        "CM000679.1:g.78032320A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75646915,
          "referenceAllele": "A",
          "start": 75646914
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75646915A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26890,
          "referenceAllele": "A",
          "start": 26889
        }
      ],
      "hgvs": [
        "NG_029761.1:g.26890A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Asn396Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.1187A>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.1187A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Asn396Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Asn396Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "A",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000269318.9:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269318.5:p.Asn396Ile",
        "hgvsWellDefined": "ENSP00000269318.5:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "A",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000374876.4:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364010.4:p.Asn396Ile",
        "hgvsWellDefined": "ENSP00000364010.4:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000374877.7:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364011.3:p.Asn396Ile",
        "hgvsWellDefined": "ENSP00000364011.3:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "A",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Asn396Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.724A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.1:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Asn396Ile",
        "hgvsWellDefined": "NP_001230271.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424821",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Asn396Ile",
        "hgvsWellDefined": "NP_060420.2:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_005257492.3:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257549.1:p.Asn396Ile",
        "hgvsWellDefined": "XP_005257549.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "A",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.1097A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Asn366Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Asn366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "A",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.8A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Asn3Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Asn3Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.1:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Asn396Ile",
        "hgvsWellDefined": "XP_011523267.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.1:n.1218A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827318256",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001330508.1:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317437.1:p.Asn396Ile",
        "hgvsWellDefined": "NP_001317437.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "A",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.1097A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Asn366Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Asn366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "A",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.8A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Asn3Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Asn3Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524965.3:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523267.1:p.Asn396Ile",
        "hgvsWellDefined": "XP_011523267.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_017024807.1:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880296.1:p.Asn396Ile",
        "hgvsWellDefined": "XP_016880296.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1781,
          "referenceAllele": "A",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.1097A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Asn366Ile",
        "hgvsWellDefined": "XP_024306589.1:p.Asn366Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_001752550.2:n.1218A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "A",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.1218A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424821",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Asn396Ile",
        "hgvsWellDefined": "NP_060420.2:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.1187A>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.1187A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Asn396Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Asn396Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827318256",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001330508.2:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317437.1:p.Asn396Ile",
        "hgvsWellDefined": "NP_001317437.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.1187A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Asn396Ile",
        "hgvsWellDefined": "NP_001230271.1:p.Asn396Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}