{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8274789",
  "communityStandardTitle": [
    "NM_002615.7(SERPINF1):c.644-4C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=668752[alleleid]",
        "alleleId": 668752,
        "preferredName": "NM_002615.7(SERPINF1):c.644-4C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/669732",
        "RCV": [
          "RCV000828828",
          "RCV001123358",
          "RCV003908126"
        ],
        "variationId": 669732
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-1678348-C-T",
        "id": "17-1678348-C-T",
        "variant": "17:1678348 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1678348C>T?assembly=hg19",
        "id": "chr17:g.1678348C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.1775054C>T?assembly=hg38",
        "id": "chr17:g.1775054C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199977856",
        "rs": 199977856
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-1678348-C-T?dataset=gnomad_r2_1",
        "id": "17-1678348-C-T",
        "variant": "17:1678348 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-1775054-C-T?dataset=gnomad_r3",
        "id": "17-1775054-C-T",
        "variant": "17:1775054 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-1775054-C-T?dataset=gnomad_r4",
        "id": "17-1775054-C-T",
        "variant": "17:1775054 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1775054,
          "referenceAllele": "C",
          "start": 1775053
        }
      ],
      "hgvs": [
        "NC_000017.11:g.1775054C>T",
        "CM000679.2:g.1775054C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1678348,
          "referenceAllele": "C",
          "start": 1678347
        }
      ],
      "hgvs": [
        "NC_000017.10:g.1678348C>T",
        "CM000679.1:g.1678348C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 1625098,
          "referenceAllele": "C",
          "start": 1625097
        }
      ],
      "hgvs": [
        "NC_000017.9:g.1625098C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18090,
          "referenceAllele": "C",
          "start": 18089
        }
      ],
      "hgvs": [
        "NG_028180.1:g.18090C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.9:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.644-4C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.644-4C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:n.644-4C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:n.644-4C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000254722.8:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254722.4:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000572048.1:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458484.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000573763.1:c.43-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461405.1:n.43-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 605,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "ENST00000576406.5:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461214.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 800,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.5:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 731,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.1:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 748,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.1:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329905.1:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316834.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.6:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_002615.7:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002606.3:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254722.9:c.644-4C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002615.7:c.644-4C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254722.4:n.644-4C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002606.3:n.644-4C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 730,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329903.2:c.644-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316832.1:n.644-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329904.2:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316833.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "C",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008824",
      "geneNCBI_id": 5176,
      "geneSymbol": "SERPINF1",
      "hgvs": [
        "NM_001329905.2:c.83-4C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316834.1:n.83-4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718576"
    }
  ],
  "type": "nucleotide"
}