{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA422663824",
  "communityStandardTitle": [
    "NM_000186.4(CFH):c.3651A>G (p.Thr1217=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.196716398A>G?assembly=hg19",
        "id": "chr1:g.196716398A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2529561837",
        "rs": 2529561837
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-196747268-A-G?dataset=gnomad_r4",
        "id": "1-196747268-A-G",
        "variant": "1:196747268 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 196747268,
          "referenceAllele": "A",
          "start": 196747267
        }
      ],
      "hgvs": [
        "NC_000001.11:g.196747268A>G",
        "CM000663.2:g.196747268A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 196716398,
          "referenceAllele": "A",
          "start": 196716397
        }
      ],
      "hgvs": [
        "NC_000001.10:g.196716398A>G",
        "CM000663.1:g.196716398A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 194983021,
          "referenceAllele": "A",
          "start": 194983020
        }
      ],
      "hgvs": [
        "NC_000001.9:g.194983021A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100258,
          "referenceAllele": "A",
          "start": 100257
        }
      ],
      "hgvs": [
        "NG_007259.1:g.100258A>G",
        "LRG_47:g.100258A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000507"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4679,
          "referenceAllele": "A",
          "start": 4678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000470918.2:n.4679A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3743,
          "referenceAllele": "A",
          "start": 3742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695970.1:c.3477A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512297.1:p.Thr1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3896,
          "referenceAllele": "A",
          "start": 3895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695971.1:c.3630A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512298.1:p.Thr1210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "A",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695972.1:c.*728A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512299.1:n.*728A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3992,
          "referenceAllele": "A",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695973.1:c.*2015A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512300.1:n.*2015A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3714,
          "referenceAllele": "A",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695974.1:c.3474A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512301.1:p.Thr1158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3885,
          "referenceAllele": "A",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695975.1:c.*1778A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512302.1:n.*1778A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3882,
          "referenceAllele": "A",
          "start": 3881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695976.1:c.3462A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512303.1:p.Thr1154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3700,
          "endIntronDirection": "+",
          "endIntronOffset": 71,
          "referenceAllele": "A",
          "start": 3700,
          "startIntronDirection": "+",
          "startIntronOffset": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695981.1:c.3580+71A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512306.1:n.3580+71A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1738,
          "referenceAllele": "A",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695984.1:c.1659A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512309.1:p.Thr553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3793,
          "referenceAllele": "A",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695986.1:c.*3302A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512311.1:n.*3302A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907465"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000695990.1:n.685A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3733,
          "referenceAllele": "A",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000696026.1:c.*1933A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512335.1:n.*1933A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3729,
          "referenceAllele": "A",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000696027.1:c.3645A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512336.1:p.Thr1215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "referenceAllele": "A",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000696028.1:c.3579A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512337.1:p.Thr1193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3729,
          "referenceAllele": "A",
          "start": 3728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000696029.1:c.3645A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512338.1:p.Thr1215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3859,
          "referenceAllele": "A",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000696031.1:c.*3169A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512340.1:n.*3169A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3846,
          "endIntronDirection": "+",
          "endIntronOffset": 71,
          "referenceAllele": "A",
          "start": 3846,
          "startIntronDirection": "+",
          "startIntronOffset": 70
        }
      ],
      "hgvs": [
        "ENST00000696032.1:c.3580+71A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512341.1:n.3580+71A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "endIntronDirection": "-",
          "endIntronOffset": 32528,
          "referenceAllele": "A",
          "start": 1387,
          "startIntronDirection": "-",
          "startIntronOffset": 32529
        }
      ],
      "hgvs": [
        "ENST00000696033.1:c.1160-32529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512342.1:n.1160-32529A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "A",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000367429.9:c.3651A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356399.4:p.Thr1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367429.9:c.3651A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000186.4:c.3651A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356399.4:p.Thr1217="
          },
          "RefSeq": {
            "hgvs": "NP_000177.2:p.Thr1217="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3891,
          "referenceAllele": "A",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000367429.8:c.3651A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356399.4:p.Thr1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6749,
          "referenceAllele": "A",
          "start": 6748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "ENST00000466229.5:n.6749A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066462877",
      "coordinates": [
        {
          "allele": "G",
          "end": 3891,
          "referenceAllele": "A",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "NM_000186.3:c.3651A>G",
        "LRG_47t1:c.3651A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000177.2:p.Thr1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3837,
          "referenceAllele": "A",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "XR_001737134.2:n.3837A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066462877",
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "A",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "NM_000186.4:c.3651A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000177.2:p.Thr1217="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674740",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367429.9:c.3651A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000186.4:c.3651A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356399.4:p.Thr1217="
          },
          "RefSeq": {
            "hgvs": "NP_000177.2:p.Thr1217="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}