{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1764079690",
  "communityStandardTitle": [
    "NM_001308093.3(GATA4):c.685T= (p.Trp229=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864321702",
        "rs": 864321702
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11748984,
          "referenceAllele": "T",
          "start": 11748983
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11748984T=",
        "CM000670.2:g.11748984T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11606493,
          "referenceAllele": "T",
          "start": 11606492
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11606493T=",
        "CM000670.1:g.11606493T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11643902,
          "referenceAllele": "T",
          "start": 11643901
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11643902T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77066,
          "referenceAllele": "T",
          "start": 77065
        }
      ],
      "hgvs": [
        "NG_008177.2:g.77066T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000922"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "T",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.3:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.2:p.Trp228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.6:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.685T="
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.685T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:p.Trp229="
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:p.Trp229="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "T",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000335135.8:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334458.4:p.Trp228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "T",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000526716.5:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435347.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000528712.5:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435043.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "T",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.5:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.2:c.679T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.1:p.Trp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "T",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.1:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "T",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.1:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075010206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "T",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.3:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Trp228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075010206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "T",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.4:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Trp228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.3:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "T",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272386.1:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272443.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_006716248.1:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716311.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.1:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "T",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.1:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.4:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "T",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.3:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "T",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.2:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2000,
          "referenceAllele": "T",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_017013312.2:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868801.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "T",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.3:c.685T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:p.Trp229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.685T="
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.685T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:p.Trp229="
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:p.Trp229="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.2:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374273.1:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361202.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 328,
          "referenceAllele": "T",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374274.1:c.64T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361203.1:p.Trp22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075010206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "T",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.5:c.682T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Trp228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695443"
    }
  ],
  "type": "nucleotide"
}