{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356922803",
  "communityStandardTitle": [
    "NM_004898.4(CLOCK):c.1183C>T (p.Leu395Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4460889",
        "active": true,
        "id": "COSM4460889"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.56319244G>A?assembly=hg19",
        "id": "chr4:g.56319244G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.55453077G>A?assembly=hg38",
        "id": "chr4:g.55453077G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6855837",
        "rs": 6855837
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55453077-G-A?dataset=gnomad_r3",
        "id": "4-55453077-G-A",
        "variant": "4:55453077 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-55453077-G-A?dataset=gnomad_r4",
        "id": "4-55453077-G-A",
        "variant": "4:55453077 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 55453077,
          "referenceAllele": "G",
          "start": 55453076
        }
      ],
      "hgvs": [
        "NC_000004.12:g.55453077G>A",
        "CM000666.2:g.55453077G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 56319244,
          "referenceAllele": "G",
          "start": 56319243
        }
      ],
      "hgvs": [
        "NC_000004.11:g.56319244G>A",
        "CM000666.1:g.56319244G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 56014001,
          "referenceAllele": "G",
          "start": 56014000
        }
      ],
      "hgvs": [
        "NC_000004.10:g.56014001G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "ENST00000513440.6:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426983.1:p.Leu395Phe",
        "hgvsWellDefined": "ENSP00000426983.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513440.6:c.1183C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004898.4:c.1183C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426983.1:p.Leu395Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004889.1:p.Leu395Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1434,
          "referenceAllele": "C",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "ENST00000309964.8:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308741.4:p.Leu395Phe",
        "hgvsWellDefined": "ENSP00000308741.4:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "ENST00000381322.5:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370723.1:p.Leu395Phe",
        "hgvsWellDefined": "ENSP00000370723.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "ENST00000513440.5:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426983.1:p.Leu395Phe",
        "hgvsWellDefined": "ENSP00000426983.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030760",
      "geneNCBI_id": 55858,
      "geneSymbol": "TMEM165",
      "hgvs": [
        "ENST00000608091.1:c.1247G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "NM_001267843.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254772.1:p.Leu395Phe",
        "hgvsWellDefined": "NP_001254772.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874899",
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "NM_004898.3:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004889.1:p.Leu395Phe",
        "hgvsWellDefined": "NP_004889.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_005265787.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265844.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_005265844.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_006714054.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714117.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_006714117.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534409.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532711.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532711.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534410.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532712.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532712.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534411.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532713.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532713.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_005265787.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265844.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_005265844.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030760",
      "geneNCBI_id": 55858,
      "geneSymbol": "TMEM165",
      "hgvs": [
        "XM_011534394.3:c.*771G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532696.1:n.*771G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2055,
          "referenceAllele": "C",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534409.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532711.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532711.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534410.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532712.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532712.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_011534411.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532713.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_011532713.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1986,
          "referenceAllele": "C",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_017008854.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864343.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_016864343.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_017008855.1:c.1006C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864344.1:p.Leu336Phe",
        "hgvsWellDefined": "XP_016864344.1:p.Leu336Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "XM_024454284.1:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310052.1:p.Leu395Phe",
        "hgvsWellDefined": "XP_024310052.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874899",
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "NM_004898.4:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004889.1:p.Leu395Phe",
        "hgvsWellDefined": "NP_004889.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513440.6:c.1183C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004898.4:c.1183C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426983.1:p.Leu395Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004889.1:p.Leu395Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002082",
      "geneNCBI_id": 9575,
      "geneSymbol": "CLOCK",
      "hgvs": [
        "NM_001267843.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254772.1:p.Leu395Phe",
        "hgvsWellDefined": "NP_001254772.1:p.Leu395Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715109"
    }
  ],
  "type": "nucleotide"
}