{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358946882",
  "communityStandardTitle": [
    "NM_207352.4(CYP4V2):c.253C>G (p.Arg85Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187115692C>G?assembly=hg19",
        "id": "chr4:g.187115692C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186194538C>G?assembly=hg38",
        "id": "chr4:g.186194538C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476186",
        "rs": 199476186
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186194538-C-G?dataset=gnomad_r4",
        "id": "4-186194538-C-G",
        "variant": "4:186194538 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 186194538,
          "referenceAllele": "C",
          "start": 186194537
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186194538C>G",
        "CM000666.2:g.186194538C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187115692,
          "referenceAllele": "C",
          "start": 187115691
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187115692C>G",
        "CM000666.1:g.187115692C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 187352686,
          "referenceAllele": "C",
          "start": 187352685
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187352686C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8019,
          "referenceAllele": "C",
          "start": 8018
        }
      ],
      "hgvs": [
        "NG_007965.1:g.8019C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000733"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.5:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Arg85Gly",
        "hgvsWellDefined": "ENSP00000368079.4:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.253C>G"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.253C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Arg85Gly"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Arg85Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.4:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Arg85Gly",
        "hgvsWellDefined": "ENSP00000368079.4:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920125",
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.3:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Arg85Gly",
        "hgvsWellDefined": "NP_997235.3:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.2:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Arg85Gly",
        "hgvsWellDefined": "XP_005262992.1:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13,
          "referenceAllele": "C",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_006714184.2:c.-58C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714247.1:n.-58C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.4:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Arg85Gly",
        "hgvsWellDefined": "XP_005262992.1:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_017008037.1:c.-58C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863526.1:n.-58C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920125",
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.4:c.253C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Arg85Gly",
        "hgvsWellDefined": "NP_997235.3:p.Arg85Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.253C>G"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.253C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Arg85Gly"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Arg85Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}