{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2374743038",
  "communityStandardTitle": [
    "NM_000744.7(CHRNA4):c.851C= (p.Ser284=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28931591",
        "rs": 28931591
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 63350560,
          "referenceAllele": "G",
          "start": 63350559
        }
      ],
      "hgvs": [
        "NC_000020.11:g.63350560G=",
        "CM000682.2:g.63350560G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 61981912,
          "referenceAllele": "G",
          "start": 61981911
        }
      ],
      "hgvs": [
        "NC_000020.10:g.61981912G=",
        "CM000682.1:g.61981912G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 61452356,
          "referenceAllele": "G",
          "start": 61452355
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61452356G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15784,
          "referenceAllele": "C",
          "start": 15783
        }
      ],
      "hgvs": [
        "NG_011931.1:g.15784C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002058"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000370263.9:c.851C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359285.4:p.Ser284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370263.9:c.851C="
          },
          "RefSeq": {
            "hgvs": "NM_000744.7:c.851C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359285.4:p.Ser284="
          },
          "RefSeq": {
            "hgvs": "NP_000735.1:p.Ser284="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000370263.8:c.851C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359285.4:p.Ser284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000463705.5:n.1499C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000467563.3:n.921C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000498043.6:c.875C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000615287.4:c.638C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483388.1:p.Ser213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000627000.1:c.*540C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486914.1:n.*540C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "ENST00000630240.1:n.572C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825251348",
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NM_000744.6:c.851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000735.1:p.Ser284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826399787",
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NM_001256573.1:c.323C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243502.1:p.Ser108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NR_046317.1:n.1107C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "XM_011528524.1:c.638C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526826.1:p.Ser213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "XM_017027625.2:c.323C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883114.1:p.Ser108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "XM_024451822.1:c.323C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307590.1:p.Ser108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826399787",
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NM_001256573.2:c.323C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243502.1:p.Ser108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NR_046317.2:n.1060C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825251348",
      "coordinates": [
        {
          "allele": "C",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001958",
      "geneNCBI_id": 1137,
      "geneSymbol": "CHRNA4",
      "hgvs": [
        "NM_000744.7:c.851C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000735.1:p.Ser284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370263.9:c.851C="
          },
          "RefSeq": {
            "hgvs": "NM_000744.7:c.851C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359285.4:p.Ser284="
          },
          "RefSeq": {
            "hgvs": "NP_000735.1:p.Ser284="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}