{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139659456",
  "communityStandardTitle": [
    "NM_000410.4(HFE):c.*838T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=895736[alleleid]",
        "alleleId": 895736,
        "preferredName": "NM_000410.4(HFE):c.*838T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/906793",
        "RCV": [
          "RCV001156194"
        ],
        "variationId": 906793
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1762963332",
        "rs": 1762963332
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 26095064,
          "referenceAllele": "T",
          "start": 26095063
        }
      ],
      "hgvs": [
        "NC_000006.12:g.26095064T>C",
        "CM000668.2:g.26095064T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 26095292,
          "referenceAllele": "T",
          "start": 26095291
        }
      ],
      "hgvs": [
        "NC_000006.11:g.26095292T>C",
        "CM000668.1:g.26095292T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 26203271,
          "referenceAllele": "T",
          "start": 26203270
        }
      ],
      "hgvs": [
        "NC_000006.10:g.26203271T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12784,
          "referenceAllele": "T",
          "start": 12783
        }
      ],
      "hgvs": [
        "NG_008720.2:g.12784T>C",
        "LRG_748:g.12784T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1710,
          "referenceAllele": "T",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000485729.2:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417534.2:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 4029,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004757",
      "geneNCBI_id": 8347,
      "geneSymbol": "H2BC4",
      "hgvs": [
        "ENST00000707188.1:c.391-4030A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516775.1:n.391-4030A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.10:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748965",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.*838T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.*838T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:n.*838T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:n.*838T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "T",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000317896.11:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313776.7:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2007,
          "referenceAllele": "T",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.9:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 28709,
          "referenceAllele": "A",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 28708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004751",
      "geneNCBI_id": 3018,
      "geneSymbol": "H2BC3",
      "hgvs": [
        "ENST00000629531.1:c.132+28709A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486472.1:n.132+28709A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2045,
          "referenceAllele": "T",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.3:c.*838T>C",
        "LRG_748t1:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1827,
          "referenceAllele": "T",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.1:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "referenceAllele": "T",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "T",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2003,
          "referenceAllele": "T",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "T",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "T",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1976,
          "referenceAllele": "T",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "T",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.2:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.1:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "referenceAllele": "T",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514544.1:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512846.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "T",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.3:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "T",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.2:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1579,
          "referenceAllele": "T",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1621,
          "referenceAllele": "T",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1855,
          "referenceAllele": "T",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "T",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "T",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1357,
          "referenceAllele": "T",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1081,
          "referenceAllele": "T",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.3:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.4:c.*838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:n.*838T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.*838T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.*838T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:n.*838T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:n.*838T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001384164.1:c.*653T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371093.1:n.*653T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722677"
    }
  ],
  "type": "nucleotide"
}