{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4183448",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)",
    "NM_018719.5(CDCA7L):c.*1314G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=252769[alleleid]",
        "alleleId": 252769,
        "preferredName": "NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257872",
        "RCV": [
          "RCV000245209",
          "RCV000325201",
          "RCV000726713"
        ],
        "variationId": 257872
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21940626-C-T",
        "id": "7-21940626-C-T",
        "variant": "7:21940626 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21940626C>T?assembly=hg19",
        "id": "chr7:g.21940626C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21901008C>T?assembly=hg38",
        "id": "chr7:g.21901008C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150682314",
        "rs": 150682314
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21940626-C-T?dataset=gnomad_r2_1",
        "id": "7-21940626-C-T",
        "variant": "7:21940626 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21901008-C-T?dataset=gnomad_r3",
        "id": "7-21901008-C-T",
        "variant": "7:21901008 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21901008-C-T?dataset=gnomad_r4",
        "id": "7-21901008-C-T",
        "variant": "7:21901008 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21901008,
          "referenceAllele": "C",
          "start": 21901007
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21901008C>T",
        "CM000669.2:g.21901008C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21940626,
          "referenceAllele": "C",
          "start": 21940625
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21940626C>T",
        "CM000669.1:g.21940626C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21907151,
          "referenceAllele": "C",
          "start": 21907150
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21907151C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362794,
          "referenceAllele": "C",
          "start": 362793
        }
      ],
      "hgvs": [
        "NG_012886.2:g.362794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2774,
          "referenceAllele": "G",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "ENST00000406877.8:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383986.3:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406877.8:c.*1314G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018719.5:c.*1314G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383986.3:n.*1314G>A"
          },
          "RefSeq": {
            "hgvs": "NP_061189.2:n.*1314G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13512,
          "referenceAllele": "C",
          "start": 13511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.13305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gly4435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.13305C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.13305C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gly4435="
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gly4435="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13357,
          "referenceAllele": "C",
          "start": 13356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.13326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Gly4442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "referenceAllele": "G",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "ENST00000356195.9:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348523.5:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
          "referenceAllele": "G",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "ENST00000406877.7:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383986.3:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13336,
          "referenceAllele": "C",
          "start": 13335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.13305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gly4435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000479878.1:n.676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "ENST00000488845.1:n.1836G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13357,
          "referenceAllele": "C",
          "start": 13356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.13326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Gly4442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_001127370.2:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120842.1:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_001127371.2:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120843.1:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826571959",
      "coordinates": [
        {
          "allele": "T",
          "end": 13336,
          "referenceAllele": "C",
          "start": 13335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.13305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gly4435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2799,
          "referenceAllele": "G",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_018719.4:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061189.2:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826571959",
      "coordinates": [
        {
          "allele": "T",
          "end": 13512,
          "referenceAllele": "C",
          "start": 13511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.13305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gly4435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.13305C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.13305C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gly4435="
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gly4435="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2774,
          "referenceAllele": "G",
          "start": 2773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_018719.5:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061189.2:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406877.8:c.*1314G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018719.5:c.*1314G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383986.3:n.*1314G>A"
          },
          "RefSeq": {
            "hgvs": "NP_061189.2:n.*1314G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2828,
          "referenceAllele": "G",
          "start": 2827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_001127370.3:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120842.1:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030777",
      "geneNCBI_id": 55536,
      "geneSymbol": "CDCA7L",
      "hgvs": [
        "NM_001127371.3:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120843.1:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676875"
    }
  ],
  "type": "nucleotide"
}