{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343719",
  "communityStandardTitle": [
    "NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47863[alleleid]",
        "alleleId": 47863,
        "preferredName": "NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39257",
        "RCV": [
          "RCV000032534"
        ],
        "variationId": 39257
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187131662C>A?assembly=hg19",
        "id": "chr4:g.187131662C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186210508C>A?assembly=hg38",
        "id": "chr4:g.186210508C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146494374",
        "rs": 146494374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187131662-C-A?dataset=gnomad_r2_1",
        "id": "4-187131662-C-A",
        "variant": "4:187131662 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186210508-C-A?dataset=gnomad_r4",
        "id": "4-186210508-C-A",
        "variant": "4:186210508 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186210508,
          "referenceAllele": "C",
          "start": 186210507
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186210508C>A",
        "CM000666.2:g.186210508C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187131662,
          "referenceAllele": "C",
          "start": 187131661
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187131662C>A",
        "CM000666.1:g.187131662C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187368656,
          "referenceAllele": "C",
          "start": 187368655
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187368656C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23989,
          "referenceAllele": "C",
          "start": 23988
        }
      ],
      "hgvs": [
        "NG_007965.1:g.23989C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6530,
          "referenceAllele": "C",
          "start": 6529
        }
      ],
      "hgvs": [
        "NG_012095.2:g.6530C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002179"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.5:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Ser482Ter",
        "hgvsWellDefined": "ENSP00000368079.4:p.Ser482_Arg525delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.1445C>A"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.1445C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Ser482Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Ser482Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.4:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Ser482Ter",
        "hgvsWellDefined": "ENSP00000368079.4:p.Ser482_Arg525delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000502665.1:n.680C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6143,
          "referenceAllele": "C",
          "start": 6142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000507209.5:n.6143C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 201,
          "endIntronDirection": "+",
          "endIntronOffset": 1236,
          "referenceAllele": "C",
          "start": 201,
          "startIntronDirection": "+",
          "startIntronOffset": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006371",
      "geneNCBI_id": 3818,
      "geneSymbol": "KLKB1",
      "hgvs": [
        "ENST00000511608.5:c.201+1236C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000513354.5:n.535C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.3:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Ser482Ter",
        "hgvsWellDefined": "NP_997235.3:p.Ser482_Arg525delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "referenceAllele": "C",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.2:c.1442C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Ser481Ter",
        "hgvsWellDefined": "XP_005262992.1:p.Ser481_Arg524delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_006714184.2:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714247.1:p.Ser350Ter",
        "hgvsWellDefined": "XP_006714247.1:p.Ser350_Arg393delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.4:c.1442C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Ser481Ter",
        "hgvsWellDefined": "XP_005262992.1:p.Ser481_Arg524delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_017008037.1:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863526.1:p.Ser350Ter",
        "hgvsWellDefined": "XP_016863526.1:p.Ser350_Arg393delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.4:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Ser482Ter",
        "hgvsWellDefined": "NP_997235.3:p.Ser482_Arg525delinsCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.1445C>A"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.1445C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Ser482Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Ser482Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}