{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126184",
  "communityStandardTitle": [
    "NM_001710.6(CFB):c.26T>A (p.Leu9His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM451227"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31116[alleleid]",
        "alleleId": 31116,
        "preferredName": "NM_001710.6(CFB):c.26T>A (p.Leu9His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16077",
        "RCV": [
          "RCV000017457",
          "RCV000264554",
          "RCV000288622",
          "RCV000385220",
          "RCV000454952",
          "RCV001516300",
          "RCV001154195",
          "RCV002490378",
          "RCV004549374"
        ],
        "variationId": 16077
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31914024-T-A",
        "id": "6-31914024-T-A",
        "variant": "6:31914024 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31914024T>A?assembly=hg19",
        "id": "chr6:g.31914024T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31946247T>A?assembly=hg38",
        "id": "chr6:g.31946247T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4151667",
        "rs": 4151667
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31914024-T-A?dataset=gnomad_r2_1",
        "id": "6-31914024-T-A",
        "variant": "6:31914024 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31946247-T-A?dataset=gnomad_r3",
        "id": "6-31946247-T-A",
        "variant": "6:31946247 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31946247-T-A?dataset=gnomad_r4",
        "id": "6-31946247-T-A",
        "variant": "6:31946247 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31946247,
          "referenceAllele": "T",
          "start": 31946246
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31946247T>A",
        "CM000668.2:g.31946247T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31914024,
          "referenceAllele": "T",
          "start": 31914023
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31914024T>A",
        "CM000668.1:g.31914024T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32022003,
          "referenceAllele": "T",
          "start": 32022002
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32022003T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5304,
          "referenceAllele": "T",
          "start": 5303
        }
      ],
      "hgvs": [
        "NG_008191.1:g.5304T>A",
        "LRG_136:g.5304T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23759,
          "referenceAllele": "T",
          "start": 23758
        }
      ],
      "hgvs": [
        "NG_011730.1:g.23759T>A",
        "LRG_26:g.23759T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001933"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "T",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000452035.7:n.203T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "T",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000483004.2:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419887.2:p.Leu9His",
        "hgvsWellDefined": "ENSP00000419887.2:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000497841.6:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513847.1:p.Leu9His",
        "hgvsWellDefined": "ENSP00000513847.1:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "T",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698628.1:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513848.1:p.Leu9His",
        "hgvsWellDefined": "ENSP00000513848.1:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "T",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698629.1:n.203T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187,
          "referenceAllele": "T",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698630.1:n.187T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "T",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698631.1:n.182T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "T",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698632.1:n.154T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698633.1:n.124T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "T",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000698636.1:n.248T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "T",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000425368.7:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416561.2:p.Leu9His",
        "hgvsWellDefined": "ENSP00000416561.2:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755071",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000425368.7:c.26T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001710.6:c.26T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416561.2:p.Leu9His"
          },
          "RefSeq": {
            "hgvs": "NP_001701.2:p.Leu9His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "T",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000425368.6:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416561.2:p.Leu9His",
        "hgvsWellDefined": "ENSP00000416561.2:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26,
          "referenceAllele": "T",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000452035.6:n.26T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "-",
          "endIntronOffset": 125,
          "referenceAllele": "T",
          "start": 1625,
          "startIntronDirection": "-",
          "startIntronOffset": 126
        }
      ],
      "hgvs": [
        "ENST00000456570.5:c.1571-126T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410815.1:n.1571-126T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000460718.5:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417793.1:p.Leu9His",
        "hgvsWellDefined": "ENSP00000417793.1:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000472581.1:n.273T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "ENST00000475617.5:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420090.1:p.Leu9His",
        "hgvsWellDefined": "ENSP00000420090.1:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 759,
          "referenceAllele": "T",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 760
        }
      ],
      "hgvs": [
        "ENST00000477310.1:c.1352-760T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418996.1:n.1352-760T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126186",
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "T",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "NM_001710.5:c.26T>A",
        "LRG_136t1:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001701.2:p.Leu9His",
        "hgvsWellDefined": "NP_001701.2:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126186",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "T",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "NM_001710.6:c.26T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001701.2:p.Leu9His",
        "hgvsWellDefined": "NP_001701.2:p.Leu9His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695345",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000425368.7:c.26T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001710.6:c.26T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416561.2:p.Leu9His"
          },
          "RefSeq": {
            "hgvs": "NP_001701.2:p.Leu9His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}