{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212673",
  "communityStandardTitle": [
    "NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39061[alleleid]",
        "alleleId": 39061,
        "preferredName": "NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30106",
        "RCV": [
          "RCV000023011"
        ],
        "variationId": 30106
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11607722G>C?assembly=hg19",
        "id": "chr8:g.11607722G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11750213G>C?assembly=hg38",
        "id": "chr8:g.11750213G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894073",
        "rs": 104894073
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11750213,
          "referenceAllele": "G",
          "start": 11750212
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11750213G>C",
        "CM000670.2:g.11750213G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11607722,
          "referenceAllele": "G",
          "start": 11607721
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11607722G>C",
        "CM000670.1:g.11607722G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11645131,
          "referenceAllele": "G",
          "start": 11645130
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11645131G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78295,
          "referenceAllele": "G",
          "start": 78294
        }
      ],
      "hgvs": [
        "NG_008177.2:g.78295G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000922"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.3:c.886G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.2:p.Gly296Arg",
        "hgvsWellDefined": "ENSP00000482268.2:p.Gly296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.6:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:p.Gly297Arg",
        "hgvsWellDefined": "ENSP00000435712.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.889G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.889G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:p.Gly297Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:p.Gly297Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000335135.8:c.886G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334458.4:p.Gly296Arg",
        "hgvsWellDefined": "ENSP00000334458.4:p.Gly296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000526716.5:c.268G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435347.1:p.Gly90Arg",
        "hgvsWellDefined": "ENSP00000435347.1:p.Gly90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000528712.5:c.268G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435043.1:p.Gly90Arg",
        "hgvsWellDefined": "ENSP00000435043.1:p.Gly90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000532059.5:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435712.1:p.Gly297Arg",
        "hgvsWellDefined": "ENSP00000435712.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "ENST00000622443.2:c.883G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482268.1:p.Gly295Arg",
        "hgvsWellDefined": "ENSP00000482268.1:p.Gly295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826922165",
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.1:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:p.Gly297Arg",
        "hgvsWellDefined": "NP_001295022.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020698",
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.1:c.268G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:p.Gly90Arg",
        "hgvsWellDefined": "NP_001295023.1:p.Gly90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102179",
      "coordinates": [
        {
          "allele": "C",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.3:c.886G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Gly296Arg",
        "hgvsWellDefined": "NP_002043.2:p.Gly296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102179",
      "coordinates": [
        {
          "allele": "C",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.4:c.886G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Gly296Arg",
        "hgvsWellDefined": "NP_002043.2:p.Gly296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.3:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_005272442.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1757,
          "referenceAllele": "G",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272386.1:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272443.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_005272443.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_006716248.1:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716311.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_006716311.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.1:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_011542119.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "G",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.1:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_011542120.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_005272385.4:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272442.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_005272442.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543817.3:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542119.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_011542119.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_011543818.2:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542120.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_011542120.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2204,
          "referenceAllele": "G",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "XM_017013312.2:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868801.1:p.Gly297Arg",
        "hgvsWellDefined": "XP_016868801.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826922165",
      "coordinates": [
        {
          "allele": "C",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308093.3:c.889G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295022.1:p.Gly297Arg",
        "hgvsWellDefined": "NP_001295022.1:p.Gly297Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000532059.6:c.889G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001308093.3:c.889G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000435712.1:p.Gly297Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001295022.1:p.Gly297Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020698",
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001308094.2:c.268G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295023.1:p.Gly90Arg",
        "hgvsWellDefined": "NP_001295023.1:p.Gly90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072789",
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374273.1:c.268G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361202.1:p.Gly90Arg",
        "hgvsWellDefined": "NP_001361202.1:p.Gly90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "endIntronDirection": "+",
          "endIntronOffset": 1128,
          "referenceAllele": "G",
          "start": 429,
          "startIntronDirection": "+",
          "startIntronOffset": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_001374274.1:c.165+1128G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361203.1:n.165+1128G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102179",
      "coordinates": [
        {
          "allele": "C",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004173",
      "geneNCBI_id": 2626,
      "geneSymbol": "GATA4",
      "hgvs": [
        "NM_002052.5:c.886G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002043.2:p.Gly296Arg",
        "hgvsWellDefined": "NP_002043.2:p.Gly296Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695443"
    }
  ],
  "type": "nucleotide"
}