{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10634668",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.*2800G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=320250[alleleid]",
        "alleleId": 320250,
        "preferredName": "NM_004612.4(TGFBR1):c.*2800G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364155",
        "RCV": [
          "RCV000280999",
          "RCV000319749",
          "RCV000372077",
          "RCV001709638"
        ],
        "variationId": 364155
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101914387G>A?assembly=hg19",
        "id": "chr9:g.101914387G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99152105G>A?assembly=hg38",
        "id": "chr9:g.99152105G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/334349",
        "rs": 334349
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101914387-G-A?dataset=gnomad_r2_1",
        "id": "9-101914387-G-A",
        "variant": "9:101914387 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99152105-G-A?dataset=gnomad_r3",
        "id": "9-99152105-G-A",
        "variant": "9:99152105 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99152105-G-A?dataset=gnomad_r4",
        "id": "9-99152105-G-A",
        "variant": "9:99152105 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 99152105,
          "referenceAllele": "G",
          "start": 99152104
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99152105G>A",
        "CM000671.2:g.99152105G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 101914387,
          "referenceAllele": "G",
          "start": 101914386
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101914387G>A",
        "CM000671.1:g.101914387G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 100954208,
          "referenceAllele": "G",
          "start": 100954207
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100954208G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51976,
          "referenceAllele": "G",
          "start": 51975
        }
      ],
      "hgvs": [
        "NG_007461.1:g.51976G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "referenceAllele": "G",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4264,
          "referenceAllele": "G",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "referenceAllele": "G",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.*2800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.*2800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.*2800G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.*2800G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4176,
          "referenceAllele": "G",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4380,
          "referenceAllele": "G",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4198,
          "referenceAllele": "G",
          "start": 4197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4441,
          "referenceAllele": "G",
          "start": 4440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4388,
          "referenceAllele": "G",
          "start": 4387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4356,
          "referenceAllele": "G",
          "start": 4355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "referenceAllele": "G",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4207,
          "referenceAllele": "G",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4405,
          "referenceAllele": "G",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.*2800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.*2800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:n.*2800G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:n.*2800G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4174,
          "referenceAllele": "G",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4417,
          "referenceAllele": "G",
          "start": 4416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.*2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.*2800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}