{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4369785",
  "communityStandardTitle": [
    "NM_017460.6(CYP3A4):c.389G>A (p.Arg130Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3642950",
        "active": true,
        "id": "COSM3642950"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-99367788-C-T",
        "id": "7-99367788-C-T",
        "variant": "7:99367788 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99367788C>T?assembly=hg19",
        "id": "chr7:g.99367788C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.99770165C>T?assembly=hg38",
        "id": "chr7:g.99770165C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552799",
        "rs": 72552799
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99367788-C-T?dataset=gnomad_r2_1",
        "id": "7-99367788-C-T",
        "variant": "7:99367788 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99770165-C-T?dataset=gnomad_r3",
        "id": "7-99770165-C-T",
        "variant": "7:99770165 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-99770165-C-T?dataset=gnomad_r4",
        "id": "7-99770165-C-T",
        "variant": "7:99770165 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99770165,
          "referenceAllele": "C",
          "start": 99770164
        }
      ],
      "hgvs": [
        "NC_000007.14:g.99770165C>T",
        "CM000669.2:g.99770165C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99367788,
          "referenceAllele": "C",
          "start": 99367787
        }
      ],
      "hgvs": [
        "NC_000007.13:g.99367788C>T",
        "CM000669.1:g.99367788C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 99205724,
          "referenceAllele": "C",
          "start": 99205723
        }
      ],
      "hgvs": [
        "NC_000007.12:g.99205724C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19021,
          "referenceAllele": "G",
          "start": 19020
        }
      ],
      "hgvs": [
        "NG_008421.1:g.19021G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.7:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.3:p.Arg130Gln",
        "hgvsWellDefined": "ENSP00000337915.3:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651514.1:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498939.1:p.Arg130Gln",
        "hgvsWellDefined": "ENSP00000498939.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771709",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.389G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.389G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:p.Arg130Gln"
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:p.Arg130Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 1657,
          "referenceAllele": "G",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000651783.1:c.58-1658G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498924.1:n.58-1658G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000652018.1:c.242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498733.1:p.Arg81Gln",
        "hgvsWellDefined": "ENSP00000498733.1:p.Arg81Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000336411.6:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337915.2:p.Arg130Gln",
        "hgvsWellDefined": "ENSP00000337915.2:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1662,
          "referenceAllele": "G",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000354593.6:c.72-1663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346607.2:n.72-1663G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000415003.1:c.428G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397208.1:p.Arg143Gln",
        "hgvsWellDefined": "ENSP00000397208.1:p.Arg143Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "ENST00000480043.1:n.286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.2:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:p.Arg130Gln",
        "hgvsWellDefined": "NP_001189784.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453492",
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.5:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:p.Arg130Gln",
        "hgvsWellDefined": "NP_059488.2:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515841.1:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514143.1:p.Arg130Gln",
        "hgvsWellDefined": "XP_011514143.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "XM_011515842.1:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514144.1:p.Arg130Gln",
        "hgvsWellDefined": "XP_011514144.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453492",
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_017460.6:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059488.2:p.Arg130Gln",
        "hgvsWellDefined": "NP_059488.2:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651514.1:c.389G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017460.6:c.389G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498939.1:p.Arg130Gln"
          },
          "RefSeq": {
            "hgvs": "NP_059488.2:p.Arg130Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002637",
      "geneNCBI_id": 1576,
      "geneSymbol": "CYP3A4",
      "hgvs": [
        "NM_001202855.3:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189784.1:p.Arg130Gln",
        "hgvsWellDefined": "NP_001189784.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679729"
    }
  ],
  "type": "nucleotide"
}