{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1764069861",
  "communityStandardTitle": [
    "NM_001308093.3(GATA4):c.913-174T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13273672",
        "rs": 13273672
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11754872,
          "referenceAllele": "T",
          "start": 11754871
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11754872T=",
        "CM000670.2:g.11754872T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11612381,
          "referenceAllele": "T",
          "start": 11612380
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11612381T=",
        "CM000670.1:g.11612381T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 11649790,
          "referenceAllele": "T",
          "start": 11649789
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11649790T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82954,
          "referenceAllele": "T",
          "start": 82953
        }
      ],
      "hgvs": [
        "NG_008177.2:g.82954T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000922"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1569,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.3:c.910-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.2:n.910-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1472,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.6:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.913-174T="
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.913-174T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:n.913-174T="
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:n.913-174T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000335135.8:c.910-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334458.4:n.910-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000526716.5:c.292-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435347.1:n.292-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000528712.5:c.292-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435043.1:n.292-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 992,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.5:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 906,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.2:c.907-174T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.1:n.907-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1369,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.1:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.1:c.292-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:n.292-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1463,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.3:c.910-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:n.910-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1520,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.4:c.910-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:n.910-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1599,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.3:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1780,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272386.1:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272443.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1701,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_006716248.1:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716311.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1767,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1767,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.1:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1834,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1834,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.1:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1592,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.4:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1770,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1770,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.3:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1909,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.2:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2227,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 2227,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_017013312.2:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868801.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1472,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.3:c.913-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:n.913-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.913-174T="
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.913-174T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:n.913-174T="
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:n.913-174T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.2:c.292-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:n.292-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 396,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374273.1:c.292-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361202.1:n.292-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374274.1:c.166-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361203.1:n.166-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "endIntronDirection": "-",
          "endIntronOffset": 173,
          "referenceAllele": "T",
          "start": 1469,
          "startIntronDirection": "-",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.5:c.910-174T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:n.910-174T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695443"
    }
  ],
  "type": "nucleotide"
}