{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9269834",
  "communityStandardTitle": [
    "NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=551380[alleleid]",
        "alleleId": 551380,
        "preferredName": "NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560337",
        "RCV": [
          "RCV000678433",
          "RCV003117484"
        ],
        "variationId": 560337
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-15655039-G-A",
        "id": "19-15655039-G-A",
        "variant": "19:15655039 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.15655039G>A?assembly=hg19",
        "id": "chr19:g.15655039G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.15544228G>A?assembly=hg38",
        "id": "chr19:g.15544228G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769229606",
        "rs": 769229606
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-15655039-G-A?dataset=gnomad_r2_1",
        "id": "19-15655039-G-A",
        "variant": "19:15655039 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-15544228-G-A?dataset=gnomad_r3",
        "id": "19-15544228-G-A",
        "variant": "19:15544228 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-15544228-G-A?dataset=gnomad_r4",
        "id": "19-15544228-G-A",
        "variant": "19:15544228 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 15544228,
          "referenceAllele": "G",
          "start": 15544227
        }
      ],
      "hgvs": [
        "NC_000019.10:g.15544228G>A",
        "CM000681.2:g.15544228G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 15655039,
          "referenceAllele": "G",
          "start": 15655038
        }
      ],
      "hgvs": [
        "NC_000019.9:g.15655039G>A",
        "CM000681.1:g.15655039G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 15516039,
          "referenceAllele": "G",
          "start": 15516038
        }
      ],
      "hgvs": [
        "NC_000019.8:g.15516039G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40704,
          "referenceAllele": "G",
          "start": 40703
        }
      ],
      "hgvs": [
        "NG_007987.1:g.40704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000754"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "ENST00000269703.8:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269703.1:p.Arg362Gln",
        "hgvsWellDefined": "ENSP00000269703.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269703.8:c.1085G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173483.4:c.1085G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269703.1:p.Arg362Gln"
          },
          "RefSeq": {
            "hgvs": "NP_775754.2:p.Arg362Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "ENST00000269703.7:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269703.1:p.Arg362Gln",
        "hgvsWellDefined": "ENSP00000269703.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "ENST00000601005.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469866.1:p.Arg362Gln",
        "hgvsWellDefined": "ENSP00000469866.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828328",
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "NM_173483.3:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775754.2:p.Arg362Gln",
        "hgvsWellDefined": "NP_775754.2:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "XM_011527692.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525994.1:p.Arg362Gln",
        "hgvsWellDefined": "XP_011525994.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "XM_011527693.1:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525995.1:p.Arg362Gln",
        "hgvsWellDefined": "XP_011525995.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "XM_011527692.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525994.1:p.Arg362Gln",
        "hgvsWellDefined": "XP_011525994.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "XM_011527693.2:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525995.1:p.Arg362Gln",
        "hgvsWellDefined": "XP_011525995.1:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828328",
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026820",
      "geneNCBI_id": 126410,
      "geneSymbol": "CYP4F22",
      "hgvs": [
        "NM_173483.4:c.1085G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775754.2:p.Arg362Gln",
        "hgvsWellDefined": "NP_775754.2:p.Arg362Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269703.8:c.1085G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173483.4:c.1085G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269703.1:p.Arg362Gln"
          },
          "RefSeq": {
            "hgvs": "NP_775754.2:p.Arg362Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}