{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA155998455",
  "communityStandardTitle": [
    "NM_017946.4(FKBP14):c.478-290C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1200482[alleleid]",
        "alleleId": 1200482,
        "preferredName": "NM_017946.4(FKBP14):c.478-290C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1210482",
        "RCV": [
          "RCV001581204"
        ],
        "variationId": 1210482
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30054799G>A?assembly=hg19",
        "id": "chr7:g.30054799G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.30015183G>A?assembly=hg38",
        "id": "chr7:g.30015183G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77072689",
        "rs": 77072689
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30054799-G-A?dataset=gnomad_r2_1",
        "id": "7-30054799-G-A",
        "variant": "7:30054799 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30015183-G-A?dataset=gnomad_r3",
        "id": "7-30015183-G-A",
        "variant": "7:30015183 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-30015183-G-A?dataset=gnomad_r4",
        "id": "7-30015183-G-A",
        "variant": "7:30015183 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 30015183,
          "referenceAllele": "G",
          "start": 30015182
        }
      ],
      "hgvs": [
        "NC_000007.14:g.30015183G>A",
        "CM000669.2:g.30015183G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 30054799,
          "referenceAllele": "G",
          "start": 30054798
        }
      ],
      "hgvs": [
        "NC_000007.13:g.30054799G>A",
        "CM000669.1:g.30054799G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 30021324,
          "referenceAllele": "G",
          "start": 30021323
        }
      ],
      "hgvs": [
        "NC_000007.12:g.30021324G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16619,
          "referenceAllele": "C",
          "start": 16618
        }
      ],
      "hgvs": [
        "NG_032173.1:g.16619C>T",
        "LRG_454:g.16619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005165"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "ENST00000222803.10:c.478-290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222803.5:n.478-290C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222803.10:c.478-290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017946.4:c.478-290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222803.5:n.478-290C>T"
          },
          "RefSeq": {
            "hgvs": "NP_060416.1:n.478-290C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "ENST00000222803.9:c.478-290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222803.5:n.478-290C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "ENST00000412494.1:c.481-290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 479,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "ENST00000419018.1:c.*125-290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406270.1:n.*125-290C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NM_017946.3:c.478-290C>T",
        "LRG_454t1:c.478-290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060416.1:n.478-290C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 862,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NR_046478.1:n.863-290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NR_046479.1:n.619-290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "endIntronDirection": "+",
          "endIntronOffset": 6806,
          "referenceAllele": "G",
          "start": 1569,
          "startIntronDirection": "+",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040990",
      "geneNCBI_id": 105375215,
      "geneSymbol": "FKBP14-AS1",
      "hgvs": [
        "XR_927144.1:n.1569+6806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "endIntronDirection": "+",
          "endIntronOffset": 6806,
          "referenceAllele": "G",
          "start": 1138,
          "startIntronDirection": "+",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040990",
      "geneNCBI_id": 105375215,
      "geneSymbol": "FKBP14-AS1",
      "hgvs": [
        "XR_927145.1:n.1138+6806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 6806,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040990",
      "geneNCBI_id": 105375215,
      "geneSymbol": "FKBP14-AS1",
      "hgvs": [
        "XR_927145.3:n.344+6806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NM_017946.4:c.478-290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060416.1:n.478-290C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222803.10:c.478-290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017946.4:c.478-290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222803.5:n.478-290C>T"
          },
          "RefSeq": {
            "hgvs": "NP_060416.1:n.478-290C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 763,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NR_046478.2:n.764-290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "endIntronDirection": "-",
          "endIntronOffset": 289,
          "referenceAllele": "C",
          "start": 519,
          "startIntronDirection": "-",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018625",
      "geneNCBI_id": 55033,
      "geneSymbol": "FKBP14",
      "hgvs": [
        "NR_046479.2:n.520-290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702508"
    }
  ],
  "type": "nucleotide"
}