{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8814614",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256510[alleleid]",
        "alleleId": 256510,
        "preferredName": "NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260970",
        "RCV": [
          "RCV000243717",
          "RCV000355943",
          "RCV001094515",
          "RCV001573244"
        ],
        "variationId": 260970
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78071068-G-A",
        "id": "17-78071068-G-A",
        "variant": "17:78071068 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78071068G>A?assembly=hg19",
        "id": "chr17:g.78071068G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80097269G>A?assembly=hg38",
        "id": "chr17:g.80097269G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/117307093",
        "rs": 117307093
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78071068-G-A?dataset=gnomad_r2_1",
        "id": "17-78071068-G-A",
        "variant": "17:78071068 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80097269-G-A?dataset=gnomad_r3",
        "id": "17-80097269-G-A",
        "variant": "17:80097269 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80097269-G-A?dataset=gnomad_r4",
        "id": "17-80097269-G-A",
        "variant": "17:80097269 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80097269,
          "referenceAllele": "G",
          "start": 80097268
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80097269G>A",
        "CM000679.2:g.80097269G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78071068,
          "referenceAllele": "G",
          "start": 78071067
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78071068G>A",
        "CM000679.1:g.78071068G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75685663,
          "referenceAllele": "G",
          "start": 75685662
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75685663G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "hgvs": [
        "NG_009822.1:g.714G>A",
        "LRG_673:g.714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65638,
          "referenceAllele": "G",
          "start": 65637
        }
      ],
      "hgvs": [
        "NG_029761.1:g.65638G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "referenceAllele": "G",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.3046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Val1016Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Val1016Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.3046G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.3046G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Val1016Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Val1016Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "referenceAllele": "G",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.3046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Val1016Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Val1016Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3297,
          "referenceAllele": "G",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000572253.5:n.3297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2583,
          "referenceAllele": "G",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.2583G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425294",
      "coordinates": [
        {
          "allele": "A",
          "end": 3077,
          "referenceAllele": "G",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.3046G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Val1016Ile",
        "hgvsWellDefined": "NP_060420.2:p.Val1016Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3114,
          "referenceAllele": "G",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.2956G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Val986Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Val986Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2046,
          "referenceAllele": "G",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Val623Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3114,
          "referenceAllele": "G",
          "start": 3113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.2956G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Val986Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Val986Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2046,
          "referenceAllele": "G",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Val623Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.2956G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Val986Ile",
        "hgvsWellDefined": "XP_024306589.1:p.Val986Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3164,
          "referenceAllele": "G",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.3164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425294",
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "referenceAllele": "G",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.3046G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Val1016Ile",
        "hgvsWellDefined": "NP_060420.2:p.Val1016Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.3046G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.3046G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Val1016Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Val1016Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}