{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3165921485",
  "communityStandardTitle": [
    "NM_017617.5(NOTCH1):c.4121G= (p.Cys1374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796867",
        "rs": 1064796867
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133340801",
        "rs": 2133340801
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 136505775,
          "referenceAllele": "C",
          "start": 136505774
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136505775C=",
        "CM000671.2:g.136505775C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139400227,
          "referenceAllele": "C",
          "start": 139400226
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139400227C=",
        "CM000671.1:g.139400227C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 138520048,
          "referenceAllele": "C",
          "start": 138520047
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138520048C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45012,
          "referenceAllele": "G",
          "start": 45011
        }
      ],
      "hgvs": [
        "NG_007458.1:g.45012G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1928,
          "referenceAllele": "G",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000645828.1:n.1928G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4383,
          "referenceAllele": "G",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000651671.1:c.4121G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498587.1:p.Cys1374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4121G="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4121G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Cys1374="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Cys1374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4383,
          "referenceAllele": "G",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000679595.1:c.4121G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506241.1:p.Cys1374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4218,
          "referenceAllele": "G",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680133.1:c.4007G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505319.1:p.Cys1336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4263,
          "referenceAllele": "G",
          "start": 4262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680218.1:c.4001G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505339.1:p.Cys1334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4269,
          "referenceAllele": "G",
          "start": 4268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680668.1:c.4007G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506336.1:p.Cys1336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680778.1:c.1718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506033.1:p.Cys573="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4351,
          "referenceAllele": "G",
          "start": 4350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000680924.1:c.*1521G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506031.1:n.*1521G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4464,
          "referenceAllele": "G",
          "start": 4463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681135.1:c.*1730G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506636.1:n.*1730G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681298.1:n.934G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3781,
          "referenceAllele": "G",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000681454.1:c.*3357G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505763.1:n.*3357G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4197,
          "referenceAllele": "G",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "ENST00000277541.6:c.4121G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000277541.6:p.Cys1374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075982824",
      "coordinates": [
        {
          "allele": "G",
          "end": 4121,
          "referenceAllele": "G",
          "start": 4120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.3:c.4121G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Cys1374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3441,
          "referenceAllele": "G",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.1:c.3422G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.1:p.Cys1141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075982824",
      "coordinates": [
        {
          "allele": "G",
          "end": 4383,
          "referenceAllele": "G",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "NM_017617.5:c.4121G="
      ],
      "proteinEffect": {
        "hgvs": "NP_060087.3:p.Cys1374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651671.1:c.4121G="
          },
          "RefSeq": {
            "hgvs": "NM_017617.5:c.4121G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498587.1:p.Cys1374="
          },
          "RefSeq": {
            "hgvs": "NP_060087.3:p.Cys1374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "G",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007881",
      "geneNCBI_id": 4851,
      "geneSymbol": "NOTCH1",
      "hgvs": [
        "XM_011518717.2:c.3398G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517019.2:p.Cys1133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545044"
    }
  ],
  "type": "nucleotide"
}