{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8709137",
  "communityStandardTitle": [
    "NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422184[alleleid]",
        "alleleId": 422184,
        "preferredName": "NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429888",
        "RCV": [
          "RCV000493171"
        ],
        "variationId": 429888
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-62022164-C-A",
        "id": "17-62022164-C-A",
        "variant": "17:62022164 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.62022164C>A?assembly=hg19",
        "id": "chr17:g.62022164C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63944804C>A?assembly=hg38",
        "id": "chr17:g.63944804C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752611838",
        "rs": 752611838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-62022164-C-A?dataset=gnomad_r2_1",
        "id": "17-62022164-C-A",
        "variant": "17:62022164 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63944804-C-A?dataset=gnomad_r4",
        "id": "17-63944804-C-A",
        "variant": "17:63944804 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 63944804,
          "referenceAllele": "C",
          "start": 63944803
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63944804C>A",
        "CM000679.2:g.63944804C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 62022164,
          "referenceAllele": "C",
          "start": 62022163
        }
      ],
      "hgvs": [
        "NC_000017.10:g.62022164C>A",
        "CM000679.1:g.62022164C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 59375896,
          "referenceAllele": "C",
          "start": 59375895
        }
      ],
      "hgvs": [
        "NC_000017.9:g.59375896C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33115,
          "referenceAllele": "G",
          "start": 33114
        }
      ],
      "hgvs": [
        "NG_011699.1:g.33115G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001908"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3858,
          "referenceAllele": "G",
          "start": 3857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000435607.3:c.3781G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396320.1:p.Glu1261Ter",
        "hgvsWellDefined": "ENSP00000396320.1:p.Glu1261_Val1836delinsGlnProGlnTyrGluValAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyLysAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlnAsnLysIleGlnGlyMetValTyrAspLeuValThrLysGlnAlaPheAspIleThrIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAsnGlnSerGlnLeuLysValAspIleLeuTyrAsnIleAsnMetIlePheIleIleIlePheThrGlyGluCysValLeuLysMetLeuAlaLeuArgGlnTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLeuAlaLeuSerAspLeuIleGlnLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgValLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetSerAsnPheAlaTyrValLysLysGluSerGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerIleIleCysLeuPheGluIleThrThrSerAlaGlyTrpAspGlyLeuLeuAsnProIleLeuAsnSerGlyProProAspCysAspProAsnLeuGluAsnProGlyThrSerValLysGlyAspCysGlyAsnProSerIleGlyIleCysPhePheCysSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheAsnValAlaThrGluGluSerSerGluProLeuGlyGluAspAspPheGluMetPheTyrGluThrTrpGluLysPheAspProAspAlaThrGlnPheIleAlaTyrSerArgLeuSerAspPheValAspThrLeuGlnGluProLeuArgIleAlaLysProAsnLysIleLysLeuIleThrLeuAspLeuProMetValProGlyAspLysIleHisCysLeuAspIleLeuPheAlaLeuThrLysGluValLeuGlyAspSerGlyGluMetAspAlaLeuLysGlnThrMetGluGluLysPheMetAlaAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysHisGluGluValCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeuLeuGlnArgSerMetLysGlnAlaSerTyrMetTyrArgHisSerHisAspGlySerGlyAspAspAlaProGluLysGluGlyLeuLeuAlaAsnThrMetSerLysMetTyrGlyHisGluAsnGlyAsnSerSerSerProSerProGluGluLysGlyGluAlaGlyAspAlaGlyProThrMetGlyLeuMetProIleSerProSerAspThrAlaTrpProProAlaProProProGlyGlnThrValArgProGlyValLysGluSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.3781G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.3781G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Glu1261Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Glu1261Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3858,
          "referenceAllele": "G",
          "start": 3857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000578147.5:c.3781G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463963.1:p.Glu1261Ter",
        "hgvsWellDefined": "ENSP00000463963.1:p.Glu1261_Val1836delinsGlnProGlnTyrGluValAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysMetArgGlyLysAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlnAsnLysIleGlnGlyMetValTyrAspLeuValThrLysGlnAlaPheAspIleThrIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAsnGlnSerGlnLeuLysValAspIleLeuTyrAsnIleAsnMetIlePheIleIleIlePheThrGlyGluCysValLeuLysMetLeuAlaLeuArgGlnTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLeuAlaLeuSerAspLeuIleGlnLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgValLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetSerAsnPheAlaTyrValLysLysGluSerGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerIleIleCysLeuPheGluIleThrThrSerAlaGlyTrpAspGlyLeuLeuAsnProIleLeuAsnSerGlyProProAspCysAspProAsnLeuGluAsnProGlyThrSerValLysGlyAspCysGlyAsnProSerIleGlyIleCysPhePheCysSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheAsnValAlaThrGluGluSerSerGluProLeuGlyGluAspAspPheGluMetPheTyrGluThrTrpGluLysPheAspProAspAlaThrGlnPheIleAlaTyrSerArgLeuSerAspPheValAspThrLeuGlnGluProLeuArgIleAlaLysProAsnLysIleLysLeuIleThrLeuAspLeuProMetValProGlyAspLysIleHisCysLeuAspIleLeuPheAlaLeuThrLysGluValLeuGlyAspSerGlyGluMetAspAlaLeuLysGlnThrMetGluGluLysPheMetAlaAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysHisGluGluValCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeuLeuGlnArgSerMetLysGlnAlaSerTyrMetTyrArgHisSerHisAspGlySerGlyAspAspAlaProGluLysGluGlyLeuLeuAlaAsnThrMetSerLysMetTyrGlyHisGluAsnGlyAsnSerSerSerProSerProGluGluLysGlyGluAlaGlyAspAlaGlyProThrMetGlyLeuMetProIleSerProSerAspThrAlaTrpProProAlaProProProGlyGlnThrValArgProGlyValLysGluSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453567",
      "coordinates": [
        {
          "allele": "T",
          "end": 3858,
          "referenceAllele": "G",
          "start": 3857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NM_000334.4:c.3781G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000325.4:p.Glu1261Ter",
        "hgvsWellDefined": "NP_000325.4:p.Glu1261_Val1836delinsGlnProGlnTyrGluValAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyLysAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlnAsnLysIleGlnGlyMetValTyrAspLeuValThrLysGlnAlaPheAspIleThrIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAsnGlnSerGlnLeuLysValAspIleLeuTyrAsnIleAsnMetIlePheIleIleIlePheThrGlyGluCysValLeuLysMetLeuAlaLeuArgGlnTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLeuAlaLeuSerAspLeuIleGlnLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgValLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetSerAsnPheAlaTyrValLysLysGluSerGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerIleIleCysLeuPheGluIleThrThrSerAlaGlyTrpAspGlyLeuLeuAsnProIleLeuAsnSerGlyProProAspCysAspProAsnLeuGluAsnProGlyThrSerValLysGlyAspCysGlyAsnProSerIleGlyIleCysPhePheCysSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheAsnValAlaThrGluGluSerSerGluProLeuGlyGluAspAspPheGluMetPheTyrGluThrTrpGluLysPheAspProAspAlaThrGlnPheIleAlaTyrSerArgLeuSerAspPheValAspThrLeuGlnGluProLeuArgIleAlaLysProAsnLysIleLysLeuIleThrLeuAspLeuProMetValProGlyAspLysIleHisCysLeuAspIleLeuPheAlaLeuThrLysGluValLeuGlyAspSerGlyGluMetAspAlaLeuLysGlnThrMetGluGluLysPheMetAlaAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysHisGluGluValCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeuLeuGlnArgSerMetLysGlnAlaSerTyrMetTyrArgHisSerHisAspGlySerGlyAspAspAlaProGluLysGluGlyLeuLeuAlaAsnThrMetSerLysMetTyrGlyHisGluAsnGlyAsnSerSerSerProSerProGluGluLysGlyGluAlaGlyAspAlaGlyProThrMetGlyLeuMetProIleSerProSerAspThrAlaTrpProProAlaProProProGlyGlnThrValArgProGlyValLysGluSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.3781G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.3781G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Glu1261Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Glu1261Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4953,
          "referenceAllele": "G",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "XM_005257566.3:c.3781G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257623.1:p.Glu1261Ter",
        "hgvsWellDefined": "XP_005257623.1:p.Glu1261_Val1836delinsGlnProGlnTyrGluValAsnLeuTyrMetTyrLeuTyrPheValIlePheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyLysAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlnAsnLysIleGlnGlyMetValTyrAspLeuValThrLysGlnAlaPheAspIleThrIleMetIleLeuIleCysLeuAsnMetValThrMetMetValGluThrAspAsnGlnSerGlnLeuLysValAspIleLeuTyrAsnIleAsnMetIlePheIleIleIlePheThrGlyGluCysValLeuLysMetLeuAlaLeuArgGlnTyrTyrPheThrValGlyTrpAsnIlePheAspPheValValValIleLeuSerIleValGlyLeuAlaLeuSerAspLeuIleGlnLysTyrPheValSerProThrLeuPheArgValIleArgLeuAlaArgIleGlyArgValLeuArgLeuIleArgGlyAlaLysGlyIleArgThrLeuLeuPheAlaLeuMetMetSerLeuProAlaLeuPheAsnIleGlyLeuLeuLeuPheLeuValMetPheIleTyrSerIlePheGlyMetSerAsnPheAlaTyrValLysLysGluSerGlyIleAspAspMetPheAsnPheGluThrPheGlyAsnSerIleIleCysLeuPheGluIleThrThrSerAlaGlyTrpAspGlyLeuLeuAsnProIleLeuAsnSerGlyProProAspCysAspProAsnLeuGluAsnProGlyThrSerValLysGlyAspCysGlyAsnProSerIleGlyIleCysPhePheCysSerTyrIleIleIleSerPheLeuIleValValAsnMetTyrIleAlaIleIleLeuGluAsnPheAsnValAlaThrGluGluSerSerGluProLeuGlyGluAspAspPheGluMetPheTyrGluThrTrpGluLysPheAspProAspAlaThrGlnPheIleAlaTyrSerArgLeuSerAspPheValAspThrLeuGlnGluProLeuArgIleAlaLysProAsnLysIleLysLeuIleThrLeuAspLeuProMetValProGlyAspLysIleHisCysLeuAspIleLeuPheAlaLeuThrLysGluValLeuGlyAspSerGlyGluMetAspAlaLeuLysGlnThrMetGluGluLysPheMetAlaAlaAsnProSerLysValSerTyrGluProIleThrThrThrLeuLysArgLysHisGluGluValCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeuLeuGlnArgSerMetLysGlnAlaSerTyrMetTyrArgHisSerHisAspGlySerGlyAspAspAlaProGluLysGluGlyLeuLeuAlaAsnThrMetSerLysMetTyrGlyHisGluAsnGlyAsnSerSerSerProSerProGluGluLysGlyGluAlaGlyAspAlaGlyProThrMetGlyLeuMetProIleSerProSerAspThrAlaTrpProProAlaProProProGlyGlnThrValArgProGlyValLysGluSerLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061757"
    }
  ],
  "type": "nucleotide"
}