{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951635",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268784[alleleid]",
        "alleleId": 268784,
        "preferredName": "NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284547",
        "RCV": [
          "RCV000339581",
          "RCV000725478",
          "RCV001276311"
        ],
        "variationId": 284547
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169833114-G-A",
        "id": "2-169833114-G-A",
        "variant": "2:169833114 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169833114G>A?assembly=hg19",
        "id": "chr2:g.169833114G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168976604G>A?assembly=hg38",
        "id": "chr2:g.168976604G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11568360",
        "rs": 11568360
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169833114-G-A?dataset=gnomad_r2_1",
        "id": "2-169833114-G-A",
        "variant": "2:169833114 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168976604-G-A?dataset=gnomad_r3",
        "id": "2-168976604-G-A",
        "variant": "2:168976604 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168976604-G-A?dataset=gnomad_r4",
        "id": "2-168976604-G-A",
        "variant": "2:168976604 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 168976604,
          "referenceAllele": "G",
          "start": 168976603
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168976604G>A",
        "CM000664.2:g.168976604G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169833114,
          "referenceAllele": "G",
          "start": 169833113
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169833114G>A",
        "CM000664.1:g.169833114G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169541360,
          "referenceAllele": "G",
          "start": 169541359
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169541360G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59720,
          "referenceAllele": "C",
          "start": 59719
        }
      ],
      "hgvs": [
        "NG_007374.1:g.59720C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59793,
          "referenceAllele": "C",
          "start": 59792
        }
      ],
      "hgvs": [
        "NG_007374.2:g.59793C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1281C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1281C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Phe427="
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Phe427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829471045",
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.1323C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Phe441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829471045",
      "coordinates": [
        {
          "allele": "T",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1281C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1281C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Phe427="
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Phe427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.1323C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Phe441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.1383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Phe461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.612C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Phe204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.66C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Phe22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}