{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043161",
  "communityStandardTitle": [
    "NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6161368",
        "active": true,
        "id": "COSM6161368"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360503[alleleid]",
        "alleleId": 360503,
        "preferredName": "NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372392",
        "RCV": [
          "RCV000414735",
          "RCV000539512",
          "RCV000852543",
          "RCV001002520",
          "RCV001788209",
          "RCV003372698"
        ],
        "variationId": 372392
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34449462G>A?assembly=hg38",
        "id": "chr21:g.34449462G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747321794",
        "rs": 747321794
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34449462-G-A?dataset=gnomad_r3",
        "id": "21-34449462-G-A",
        "variant": "21:34449462 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34449462-G-A?dataset=gnomad_r4",
        "id": "21-34449462-G-A",
        "variant": "21:34449462 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 34449462,
          "referenceAllele": "G",
          "start": 34449461
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34449462G>A",
        "CM000683.2:g.34449462G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66854,
          "referenceAllele": "C",
          "start": 66853
        }
      ],
      "hgvs": [
        "NG_009091.1:g.66854C>T",
        "LRG_290:g.66854C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001424"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399286.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382226.2:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000382226.2:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399286.3:c.173C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000219.6:c.173C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382226.2:p.Thr58Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000210.2:p.Thr58Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000337385.7:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337255.3:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000337255.3:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399284.1:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382225.1:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000382225.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399286.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382226.2:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000382226.2:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399289.7:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382228.3:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000382228.3:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000416357.6:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416258.2:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000416258.2:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000432085.5:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412498.1:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000412498.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000611936.1:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478215.1:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000478215.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000621601.4:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483895.1:p.Thr58Ile",
        "hgvsWellDefined": "ENSP00000483895.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825090531",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_000219.5:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000210.2:p.Thr58Ile",
        "hgvsWellDefined": "NP_000210.2:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652647",
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127668.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121140.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121140.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652837",
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127669.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121141.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121141.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460501",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127670.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121142.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121142.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511438",
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270402.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257331.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257331.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511787",
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270403.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257332.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257332.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826512158",
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270404.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257333.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257333.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002247",
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270405.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257334.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257334.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 5924,
          "referenceAllele": "C",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 5923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_011529555.1:c.13+5924C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527857.1:n.13+5924C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 9192,
          "referenceAllele": "C",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 9191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_011529557.1:c.279+9192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527859.1:n.279+9192C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_017028342.1:c.236C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883831.1:p.Thr79Ile",
        "hgvsWellDefined": "XP_016883831.1:p.Thr79Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825090531",
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_000219.6:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000210.2:p.Thr58Ile",
        "hgvsWellDefined": "NP_000210.2:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399286.3:c.173C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000219.6:c.173C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382226.2:p.Thr58Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000210.2:p.Thr58Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652837",
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127669.4:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121141.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121141.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652647",
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127668.4:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121140.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121140.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460501",
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127670.4:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121142.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001121142.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511438",
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270402.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257331.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257331.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826512158",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270404.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257333.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257333.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002247",
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270405.3:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257334.1:p.Thr58Ile",
        "hgvsWellDefined": "NP_001257334.1:p.Thr58Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715151"
    }
  ],
  "type": "nucleotide"
}