{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213654",
  "communityStandardTitle": [
    "NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1455287",
        "active": true,
        "id": "COSM1455287"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44646[alleleid]",
        "alleleId": 44646,
        "preferredName": "NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35982",
        "RCV": [
          "RCV000029638",
          "RCV002250464",
          "RCV002496449"
        ],
        "variationId": 35982
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-143957129-G-A",
        "id": "8-143957129-G-A",
        "variant": "8:143957129 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143957129G>A?assembly=hg19",
        "id": "chr8:g.143957129G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.142875713G>A?assembly=hg38",
        "id": "chr8:g.142875713G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61752786",
        "rs": 61752786
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143957129-G-A?dataset=gnomad_r2_1",
        "id": "8-143957129-G-A",
        "variant": "8:143957129 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142875713-G-A?dataset=gnomad_r3",
        "id": "8-142875713-G-A",
        "variant": "8:142875713 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142875713-G-A?dataset=gnomad_r4",
        "id": "8-142875713-G-A",
        "variant": "8:142875713 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 142875713,
          "referenceAllele": "G",
          "start": 142875712
        }
      ],
      "hgvs": [
        "NC_000008.11:g.142875713G>A",
        "CM000670.2:g.142875713G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143957129,
          "referenceAllele": "G",
          "start": 143957128
        }
      ],
      "hgvs": [
        "NC_000008.10:g.143957129G>A",
        "CM000670.1:g.143957129G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143954131,
          "referenceAllele": "G",
          "start": 143954130
        }
      ],
      "hgvs": [
        "NC_000008.9:g.143954131G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9108,
          "referenceAllele": "C",
          "start": 9107
        }
      ],
      "hgvs": [
        "NG_007954.1:g.9108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000722"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.10:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.5:p.Arg374Trp",
        "hgvsWellDefined": "ENSP00000292427.5:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.1120C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.1120C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Arg374Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Arg374Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.8:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.4:p.Arg374Trp",
        "hgvsWellDefined": "ENSP00000292427.4:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000314111.4:n.1515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000377675.3:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366903.3:p.Arg445Trp",
        "hgvsWellDefined": "ENSP00000366903.3:p.Arg445Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000517471.5:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428043.1:p.Arg374Trp",
        "hgvsWellDefined": "ENSP00000428043.1:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000519285.5:c.85C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430144.1:p.Arg29Trp",
        "hgvsWellDefined": "ENSP00000430144.1:p.Arg29Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 34488,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 34487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "ENST00000522728.5:c.181+34488G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430799.1:n.181+34488G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213655",
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.3:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Arg374Trp",
        "hgvsWellDefined": "NP_000488.3:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957348",
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_001026213.1:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001021384.1:p.Arg374Trp",
        "hgvsWellDefined": "NP_001021384.1:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516870.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515172.1:p.Arg400Trp",
        "hgvsWellDefined": "XP_011515172.1:p.Arg400Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516871.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515173.1:p.Arg400Trp",
        "hgvsWellDefined": "XP_011515173.1:p.Arg400Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516872.1:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515174.1:p.Arg374Trp",
        "hgvsWellDefined": "XP_011515174.1:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516873.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515175.1:p.Arg400Trp",
        "hgvsWellDefined": "XP_011515175.1:p.Arg400Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516874.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515176.1:p.Arg400Trp",
        "hgvsWellDefined": "XP_011515176.1:p.Arg400Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516875.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515177.1:p.Arg313Trp",
        "hgvsWellDefined": "XP_011515177.1:p.Arg313Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516876.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515178.1:p.Arg400Trp",
        "hgvsWellDefined": "XP_011515178.1:p.Arg400Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 34488,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 34487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "XM_011516970.1:c.214+34488G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515272.1:n.214+34488G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213655",
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.4:c.1120C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Arg374Trp",
        "hgvsWellDefined": "NP_000488.3:p.Arg374Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.1120C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.1120C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Arg374Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Arg374Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}