{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1358593014",
  "communityStandardTitle": [
    "NM_000335.5(SCN5A):c.436G= (p.Val146=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199473061",
        "rs": 199473061
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 38622446,
          "referenceAllele": "C",
          "start": 38622445
        }
      ],
      "hgvs": [
        "NC_000003.12:g.38622446C=",
        "CM000665.2:g.38622446C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 38663937,
          "referenceAllele": "C",
          "start": 38663936
        }
      ],
      "hgvs": [
        "NC_000003.11:g.38663937C=",
        "CM000665.1:g.38663937C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 38638941,
          "referenceAllele": "C",
          "start": 38638940
        }
      ],
      "hgvs": [
        "NC_000003.10:g.38638941C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32227,
          "referenceAllele": "G",
          "start": 32226
        }
      ],
      "hgvs": [
        "NG_008934.1:g.32227G=",
        "LRG_289:g.32227G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001312"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000327956.7:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333674.7:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.9:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Val146="
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Val146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.7:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Val146="
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Val146="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "G",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000333535.8:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328968.4:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000413689.5:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410257.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000414099.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398962.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000423572.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398266.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000425664.5:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416634.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000449557.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413996.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000450102.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403355.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000451551.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388797.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000455624.6:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399524.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000491944.1:n.631G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "ENST00000612060.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479016.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825128486",
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.4:c.436G=",
        "LRG_289t2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825537572",
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.1:c.436G=",
        "LRG_289t3:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492241",
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825940146",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825943205",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830428846",
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.2:c.436G=",
        "LRG_289t1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_006713282.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713345.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533992.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532294.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827921396",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_011533991.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532293.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "XM_017007017.1:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862506.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825128486",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_000335.5:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000326.2:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423572.7:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_000335.5:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398266.2:p.Val146="
          },
          "RefSeq": {
            "hgvs": "NP_000326.2:p.Val146="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825940146",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160160.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153632.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827921396",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825537572",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.436G="
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.436G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Val146="
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Val146="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492241",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825943205",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.2:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830428846",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.3:c.436G="
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Val146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729873"
    }
  ],
  "type": "nucleotide"
}