{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1883866363",
  "communityStandardTitle": [
    "NM_020822.3(KCNT1):c.1193G= (p.Arg398=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515407",
        "rs": 397515407
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135765188,
          "referenceAllele": "G",
          "start": 135765187
        }
      ],
      "hgvs": [
        "NC_000009.12:g.135765188G=",
        "CM000671.2:g.135765188G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138657034,
          "referenceAllele": "G",
          "start": 138657033
        }
      ],
      "hgvs": [
        "NC_000009.11:g.138657034G=",
        "CM000671.1:g.138657034G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 137796855,
          "referenceAllele": "G",
          "start": 137796854
        }
      ],
      "hgvs": [
        "NC_000009.10:g.137796855G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68004,
          "referenceAllele": "G",
          "start": 68003
        }
      ],
      "hgvs": [
        "NG_033070.1:g.68004G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000371757.7:c.1193G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360822.2:p.Arg398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371757.7:c.1193G="
          },
          "RefSeq": {
            "hgvs": "NM_020822.3:c.1193G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360822.2:p.Arg398="
          },
          "RefSeq": {
            "hgvs": "NP_065873.2:p.Arg398="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000674572.1:c.1034G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501742.1:p.Arg345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000675090.1:c.941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501833.1:p.Arg314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000675399.1:c.941G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501932.1:p.Arg314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000676421.1:c.950G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502322.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000263604.5:c.1094G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263604.4:p.Arg365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000371757.6:c.1193G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360822.2:p.Arg398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000460750.5:c.*803G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418777.1:n.*803G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000486577.6:c.1076G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417578.3:p.Arg359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000487664.5:c.1193G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417851.2:p.Arg398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000488444.6:c.1136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419007.3:p.Arg379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000490355.6:c.1136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418003.3:p.Arg379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000490363.3:n.1012G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000491806.6:c.1136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419086.3:p.Arg379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000628528.2:c.1058G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486374.1:p.Arg353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000630792.2:c.1034G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486486.1:p.Arg345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000631073.2:c.1136G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486130.1:p.Arg379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826547809",
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.1:c.1058G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Arg353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829958263",
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_020822.2:c.1193G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065873.2:p.Arg398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518877.1:c.1328G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517179.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518878.1:c.1337G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517180.1:p.Arg446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518879.1:c.1328G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517181.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518880.1:c.1094G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517182.1:p.Arg365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518881.1:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517183.1:p.Arg228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518877.3:c.1328G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517179.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518878.3:c.1337G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517180.1:p.Arg446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518879.3:c.1328G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517181.1:p.Arg443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "referenceAllele": "G",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518881.3:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517183.1:p.Arg228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014931.1:c.1127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870420.1:p.Arg376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014932.1:c.950G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870421.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014933.1:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870422.1:p.Arg228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447617.1:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303385.1:p.Arg228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447618.1:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303386.1:p.Arg228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829958263",
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_020822.3:c.1193G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065873.2:p.Arg398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371757.7:c.1193G="
          },
          "RefSeq": {
            "hgvs": "NM_020822.3:c.1193G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360822.2:p.Arg398="
          },
          "RefSeq": {
            "hgvs": "NP_065873.2:p.Arg398="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826547809",
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.2:c.1058G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Arg353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681247"
    }
  ],
  "type": "nucleotide"
}