{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10724081",
  "communityStandardTitle": [
    "NM_001441.3(FAAH):c.196-2723T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN6458004"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46865040T>C?assembly=hg19",
        "id": "chr1:g.46865040T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.46399368T>C?assembly=hg38",
        "id": "chr1:g.46399368T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4141964",
        "rs": 4141964
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-46865040-T-C?dataset=gnomad_r2_1",
        "id": "1-46865040-T-C",
        "variant": "1:46865040 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-46399368-T-C?dataset=gnomad_r3",
        "id": "1-46399368-T-C",
        "variant": "1:46399368 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-46399368-T-C?dataset=gnomad_r4",
        "id": "1-46399368-T-C",
        "variant": "1:46399368 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46399368,
          "referenceAllele": "T",
          "start": 46399367
        }
      ],
      "hgvs": [
        "NC_000001.11:g.46399368T>C",
        "CM000663.2:g.46399368T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46865040,
          "referenceAllele": "T",
          "start": 46865039
        }
      ],
      "hgvs": [
        "NC_000001.10:g.46865040T>C",
        "CM000663.1:g.46865040T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 46637627,
          "referenceAllele": "T",
          "start": 46637626
        }
      ],
      "hgvs": [
        "NC_000001.9:g.46637627T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10102,
          "referenceAllele": "T",
          "start": 10101
        }
      ],
      "hgvs": [
        "NG_012195.1:g.10102T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002278"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "ENST00000243167.9:c.196-2723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243167.8:n.196-2723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741165",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243167.9:c.196-2723T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001441.3:c.196-2723T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243167.8:n.196-2723T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001432.2:n.196-2723T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "ENST00000243167.8:c.196-2723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243167.8:n.196-2723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "ENST00000468718.5:n.216-2723T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "ENST00000493735.5:n.174-2723T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "NM_001441.2:c.196-2723T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001432.2:n.196-2723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 2722,
          "referenceAllele": "T",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003553",
      "geneNCBI_id": 2166,
      "geneSymbol": "FAAH",
      "hgvs": [
        "NM_001441.3:c.196-2723T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001432.2:n.196-2723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243167.9:c.196-2723T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001441.3:c.196-2723T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243167.8:n.196-2723T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001432.2:n.196-2723T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}