{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013417",
  "communityStandardTitle": [
    "NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1216240",
        "active": true,
        "id": "COSM1216240"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165566[alleleid]",
        "alleleId": 165566,
        "preferredName": "NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155814",
        "RCV": [
          "RCV000143923",
          "RCV000158590",
          "RCV000529602",
          "RCV000621026",
          "RCV003149914"
        ],
        "variationId": 155814
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-23891476-C-T",
        "id": "14-23891476-C-T",
        "variant": "14:23891476 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23891476C>T?assembly=hg19",
        "id": "chr14:g.23891476C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23422267C>T?assembly=hg38",
        "id": "chr14:g.23422267C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587782962",
        "rs": 587782962
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23891476-C-T?dataset=gnomad_r2_1",
        "id": "14-23891476-C-T",
        "variant": "14:23891476 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23422267-C-T?dataset=gnomad_r3",
        "id": "14-23422267-C-T",
        "variant": "14:23422267 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23422267-C-T?dataset=gnomad_r4",
        "id": "14-23422267-C-T",
        "variant": "14:23422267 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23422267,
          "referenceAllele": "C",
          "start": 23422266
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23422267C>T",
        "CM000676.2:g.23422267C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23891476,
          "referenceAllele": "C",
          "start": 23891475
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23891476C>T",
        "CM000676.1:g.23891476C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 22961316,
          "referenceAllele": "C",
          "start": 22961315
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22961316C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18395,
          "referenceAllele": "G",
          "start": 18394
        }
      ],
      "hgvs": [
        "NG_007884.1:g.18395G>A",
        "LRG_384:g.18395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000691"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.4:c.3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Arg1053Gln",
        "hgvsWellDefined": "ENSP00000347507.3:p.Arg1053Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748658",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.3158G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.3158G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Arg1053Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Arg1053Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.3:c.3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Arg1053Gln",
        "hgvsWellDefined": "ENSP00000347507.3:p.Arg1053Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296594",
      "coordinates": [
        {
          "allele": "A",
          "end": 3289,
          "referenceAllele": "G",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.3:c.3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Arg1053Gln",
        "hgvsWellDefined": "NP_000248.2:p.Arg1053Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3264,
          "referenceAllele": "G",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XR_245686.3:n.3264G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XM_017021340.1:c.3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876829.1:p.Arg1053Gln",
        "hgvsWellDefined": "XP_016876829.1:p.Arg1053Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296594",
      "coordinates": [
        {
          "allele": "A",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.4:c.3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Arg1053Gln",
        "hgvsWellDefined": "NP_000248.2:p.Arg1053Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.3158G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.3158G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Arg1053Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Arg1053Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}