{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8814549",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268134[alleleid]",
        "alleleId": 268134,
        "preferredName": "NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283897",
        "RCV": [
          "RCV000476575",
          "RCV000725355"
        ],
        "variationId": 283897
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78069140-G-A",
        "id": "17-78069140-G-A",
        "variant": "17:78069140 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78069140G>A?assembly=hg19",
        "id": "chr17:g.78069140G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80095341G>A?assembly=hg38",
        "id": "chr17:g.80095341G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746632559",
        "rs": 746632559
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78069140-G-A?dataset=gnomad_r2_1",
        "id": "17-78069140-G-A",
        "variant": "17:78069140 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80095341-G-A?dataset=gnomad_r3",
        "id": "17-80095341-G-A",
        "variant": "17:80095341 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80095341-G-A?dataset=gnomad_r4",
        "id": "17-80095341-G-A",
        "variant": "17:80095341 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80095341,
          "referenceAllele": "G",
          "start": 80095340
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80095341G>A",
        "CM000679.2:g.80095341G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78069140,
          "referenceAllele": "G",
          "start": 78069139
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78069140G>A",
        "CM000679.1:g.78069140G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75683735,
          "referenceAllele": "G",
          "start": 75683734
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75683735G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63710,
          "referenceAllele": "G",
          "start": 63709
        }
      ],
      "hgvs": [
        "NG_029761.1:g.63710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2932,
          "referenceAllele": "G",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Val971Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Val971Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Val971Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Val971Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2938,
          "referenceAllele": "G",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Val971Ile",
        "hgvsWellDefined": "ENSP00000380679.4:p.Val971Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "G",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000572253.5:n.3162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.2448G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425194",
      "coordinates": [
        {
          "allele": "A",
          "end": 2942,
          "referenceAllele": "G",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Val971Ile",
        "hgvsWellDefined": "NP_060420.2:p.Val971Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2979,
          "referenceAllele": "G",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.2821G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Val941Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Val941Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.1732G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Val578Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Val578Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2979,
          "referenceAllele": "G",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.2821G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Val941Ile",
        "hgvsWellDefined": "XP_011523265.1:p.Val941Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.1732G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Val578Ile",
        "hgvsWellDefined": "XP_011523266.1:p.Val578Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.2821G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Val941Ile",
        "hgvsWellDefined": "XP_024306589.1:p.Val941Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3029,
          "referenceAllele": "G",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.3029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645425194",
      "coordinates": [
        {
          "allele": "A",
          "end": 2932,
          "referenceAllele": "G",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Val971Ile",
        "hgvsWellDefined": "NP_060420.2:p.Val971Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2911G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2911G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Val971Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Val971Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}