{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4180054",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395560[alleleid]",
        "alleleId": 395560,
        "preferredName": "NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/416430",
        "RCV": [
          "RCV000466429",
          "RCV004535489"
        ],
        "variationId": 416430
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21659659-C-T",
        "id": "7-21659659-C-T",
        "variant": "7:21659659 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21659659C>T?assembly=hg19",
        "id": "chr7:g.21659659C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21620041C>T?assembly=hg38",
        "id": "chr7:g.21620041C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200581574",
        "rs": 200581574
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21659659-C-T?dataset=gnomad_r2_1",
        "id": "7-21659659-C-T",
        "variant": "7:21659659 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21620041-C-T?dataset=gnomad_r3",
        "id": "7-21620041-C-T",
        "variant": "7:21620041 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21620041-C-T?dataset=gnomad_r4",
        "id": "7-21620041-C-T",
        "variant": "7:21620041 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21620041,
          "referenceAllele": "C",
          "start": 21620040
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21620041C>T",
        "CM000669.2:g.21620041C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21659659,
          "referenceAllele": "C",
          "start": 21659658
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21659659C>T",
        "CM000669.1:g.21659659C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21626184,
          "referenceAllele": "C",
          "start": 21626183
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21626184C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81827,
          "referenceAllele": "C",
          "start": 81826
        }
      ],
      "hgvs": [
        "NG_012886.2:g.81827C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4670,
          "referenceAllele": "C",
          "start": 4669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.4463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Ser1488Phe",
        "hgvsWellDefined": "ENSP00000475939.1:p.Ser1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.4463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.4463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Ser1488Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Ser1488Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4509,
          "referenceAllele": "C",
          "start": 4508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.4478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Ser1493Phe",
        "hgvsWellDefined": "ENSP00000330671.7:p.Ser1493Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4494,
          "referenceAllele": "C",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.4463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Ser1488Phe",
        "hgvsWellDefined": "ENSP00000475939.1:p.Ser1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000465593.1:n.489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4509,
          "referenceAllele": "C",
          "start": 4508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.4478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Ser1493Phe",
        "hgvsWellDefined": "ENSP00000481693.1:p.Ser1493Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377253",
      "coordinates": [
        {
          "allele": "T",
          "end": 4494,
          "referenceAllele": "C",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.4463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Ser1488Phe",
        "hgvsWellDefined": "NP_001264044.1:p.Ser1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377253",
      "coordinates": [
        {
          "allele": "T",
          "end": 4670,
          "referenceAllele": "C",
          "start": 4669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.4463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Ser1488Phe",
        "hgvsWellDefined": "NP_001264044.1:p.Ser1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.4463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.4463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Ser1488Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Ser1488Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}