{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2365761547",
  "communityStandardTitle": [
    "NM_175914.5(HNF4A):c.335G= (p.Arg112=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307913",
        "rs": 1085307913
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 44413709,
          "referenceAllele": "G",
          "start": 44413708
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44413709G=",
        "CM000682.2:g.44413709G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 43042349,
          "referenceAllele": "G",
          "start": 43042348
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43042349G=",
        "CM000682.1:g.43042349G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 42475763,
          "referenceAllele": "G",
          "start": 42475762
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42475763G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62909,
          "referenceAllele": "G",
          "start": 62908
        }
      ],
      "hgvs": [
        "NG_009818.1:g.62909G=",
        "LRG_483:g.62909G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001655"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000316673.9:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315180.4:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904378",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316673.9:c.335G="
          },
          "RefSeq": {
            "hgvs": "NM_175914.5:c.335G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315180.4:p.Arg112="
          },
          "RefSeq": {
            "hgvs": "NP_787110.2:p.Arg112="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000316099.10:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312987.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000619550.5:c.375G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000683148.1:n.377G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1525,
          "referenceAllele": "G",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000683657.1:n.1525G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000316099.9:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312987.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000316099.8:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312987.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000316673.8:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315180.4:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000372920.1:c.*168G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362011.1:n.*168G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000415691.2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412111.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000443598.6:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410911.2:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000457232.5:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396216.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000609795.5:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476609.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "ENST00000619550.4:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481331.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087741567",
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_000457.4:c.401G=",
        "LRG_483t2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000448.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001030003.2:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001025174.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001030004.2:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001025175.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001258355.1:c.380G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245284.1:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287182.1:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274111.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287183.1:c.326G=",
        "LRG_483t3:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274112.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287184.1:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274113.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_175914.4:c.335G=",
        "LRG_483t1:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_787110.2:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_178849.2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_849180.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_178850.2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_849181.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "XM_005260407.2:c.518G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260464.1:p.Arg173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "XM_011528797.1:c.449G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527099.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "XM_011528798.1:c.449G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527100.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "XM_005260407.4:c.518G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260464.1:p.Arg173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001030003.3:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001025174.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001030004.3:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001025175.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001258355.2:c.380G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245284.1:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287182.2:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274111.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287184.2:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274113.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_178849.3:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_849180.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_178850.3:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_849181.1:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087741567",
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_000457.5:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000448.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087741567",
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_000457.6:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000448.3:p.Arg134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_001287183.2:c.326G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001274112.1:p.Arg109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005024",
      "geneNCBI_id": 3172,
      "geneSymbol": "HNF4A",
      "hgvs": [
        "NM_175914.5:c.335G="
      ],
      "proteinEffect": {
        "hgvs": "NP_787110.2:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316673.9:c.335G="
          },
          "RefSeq": {
            "hgvs": "NM_175914.5:c.335G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315180.4:p.Arg112="
          },
          "RefSeq": {
            "hgvs": "NP_787110.2:p.Arg112="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}