{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401349125",
  "communityStandardTitle": [
    "NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846373[alleleid]",
        "alleleId": 846373,
        "preferredName": "NM_017950.4(CCDC40):c.2597A>G (p.Asn866Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/861549",
        "RCV": [
          "RCV001068100"
        ],
        "variationId": 861549
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78061553A>G?assembly=hg19",
        "id": "chr17:g.78061553A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80087754A>G?assembly=hg38",
        "id": "chr17:g.80087754A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2038617610",
        "rs": 2038617610
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80087754-A-G?dataset=gnomad_r4",
        "id": "17-80087754-A-G",
        "variant": "17:80087754 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80087754,
          "referenceAllele": "A",
          "start": 80087753
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80087754A>G",
        "CM000679.2:g.80087754A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78061553,
          "referenceAllele": "A",
          "start": 78061552
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78061553A>G",
        "CM000679.1:g.78061553A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75676148,
          "referenceAllele": "A",
          "start": 75676147
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75676148A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56123,
          "referenceAllele": "A",
          "start": 56122
        }
      ],
      "hgvs": [
        "NG_029761.1:g.56123A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.9:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Asn866Ser",
        "hgvsWellDefined": "ENSP00000380679.4:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2597A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2597A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Asn866Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Asn866Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000374877.7:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364011.3:p.Asn866Ser",
        "hgvsWellDefined": "ENSP00000364011.3:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2624,
          "referenceAllele": "A",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000397545.8:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380679.4:p.Asn866Ser",
        "hgvsWellDefined": "ENSP00000380679.4:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2614,
          "referenceAllele": "A",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000572253.5:n.2614A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "A",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574799.5:n.2134A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52,
          "referenceAllele": "A",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000574933.1:n.52A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "ENST00000575431.1:n.241A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.1:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Asn866Ser",
        "hgvsWellDefined": "NP_001230271.1:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139733369",
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.3:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Asn866Ser",
        "hgvsWellDefined": "NP_060420.2:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.1:c.2507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Asn836Ser",
        "hgvsWellDefined": "XP_011523265.1:p.Asn836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "A",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.1:c.1418A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Asn473Ser",
        "hgvsWellDefined": "XP_011523266.1:p.Asn473Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.1:n.2628A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524963.3:c.2507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523265.1:p.Asn836Ser",
        "hgvsWellDefined": "XP_011523265.1:p.Asn836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "A",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_011524964.3:c.1418A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523266.1:p.Asn473Ser",
        "hgvsWellDefined": "XP_011523266.1:p.Asn473Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3191,
          "referenceAllele": "A",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XM_024450821.1:c.2507A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306589.1:p.Asn836Ser",
        "hgvsWellDefined": "XP_024306589.1:p.Asn836Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_001752550.2:n.2628A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.2628A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139733369",
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Asn866Ser",
        "hgvsWellDefined": "NP_060420.2:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2597A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2597A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Asn866Ser"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Asn866Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "referenceAllele": "A",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.2597A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Asn866Ser",
        "hgvsWellDefined": "NP_001230271.1:p.Asn866Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}