{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5342134",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6414032"
      },
      {
        "active": false,
        "id": "COSM6414033"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397214[alleleid]",
        "alleleId": 397214,
        "preferredName": "NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409065",
        "RCV": [
          "RCV000466090",
          "RCV001508285",
          "RCV002285159",
          "RCV002270502",
          "RCV002348312"
        ],
        "variationId": 409065
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-139417517-C-T",
        "id": "9-139417517-C-T",
        "variant": "9:139417517 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139417517C>T?assembly=hg19",
        "id": "chr9:g.139417517C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136523065C>T?assembly=hg38",
        "id": "chr9:g.136523065C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375065108",
        "rs": 375065108
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-139417517-C-T?dataset=gnomad_r2_1",
        "id": "9-139417517-C-T",
        "variant": "9:139417517 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136523065-C-T?dataset=gnomad_r3",
        "id": "9-136523065-C-T",
        "variant": "9:136523065 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136523065-C-T?dataset=gnomad_r4",
        "id": "9-136523065-C-T",
        "variant": "9:136523065 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 136523065,
          "referenceAllele": "C",
          "start": 136523064
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136523065C>T",
        "CM000671.2:g.136523065C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 139417517,
          "referenceAllele": "C",
          "start": 139417516
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139417517C>T",
        "CM000671.1:g.139417517C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 138537338,
          "referenceAllele": "C",
          "start": 138537337
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138537338C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27722,
          "referenceAllele": "G",
          "start": 27721
        }
      ],
      "hgvs": [
        "NG_007458.1:g.27722G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000491649.2:n.306G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000498587.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.527G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.527G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Arg176Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Arg176Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000506241.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000505319.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000505339.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000506336.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000506031.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000506636.1:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 3499,
          "referenceAllele": "G",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 3500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.141-3500G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.141-3500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Arg176Gln",
        "hgvsWellDefined": "ENSP00000277541.6:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000491649.1:n.306G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490886",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Arg176Gln",
        "hgvsWellDefined": "NP_060087.3:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62,
          "endIntronDirection": "-",
          "endIntronOffset": 3499,
          "referenceAllele": "G",
          "start": 62,
          "startIntronDirection": "-",
          "startIntronOffset": 3500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.44-3500G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:n.44-3500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490886",
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.527G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Arg176Gln",
        "hgvsWellDefined": "NP_060087.3:p.Arg176Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.527G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.527G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Arg176Gln"
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Arg176Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "endIntronDirection": "-",
          "endIntronOffset": 3499,
          "referenceAllele": "G",
          "start": 34,
          "startIntronDirection": "-",
          "startIntronOffset": 3500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.20-3500G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:n.20-3500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}