{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343731",
  "communityStandardTitle": [
    "NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47871[alleleid]",
        "alleleId": 47871,
        "preferredName": "NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39265",
        "RCV": [
          "RCV000032542",
          "RCV001093468"
        ],
        "variationId": 39265
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-187117229-G-T",
        "id": "4-187117229-G-T",
        "variant": "4:187117229 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187117229G>T?assembly=hg19",
        "id": "chr4:g.187117229G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186196075G>T?assembly=hg38",
        "id": "chr4:g.186196075G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476189",
        "rs": 199476189
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187117229-G-T?dataset=gnomad_r2_1",
        "id": "4-187117229-G-T",
        "variant": "4:187117229 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186196075-G-T?dataset=gnomad_r3",
        "id": "4-186196075-G-T",
        "variant": "4:186196075 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186196075-G-T?dataset=gnomad_r4",
        "id": "4-186196075-G-T",
        "variant": "4:186196075 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 186196075,
          "referenceAllele": "G",
          "start": 186196074
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186196075G>T",
        "CM000666.2:g.186196075G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187117229,
          "referenceAllele": "G",
          "start": 187117228
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187117229G>T",
        "CM000666.1:g.187117229G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187354223,
          "referenceAllele": "G",
          "start": 187354222
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187354223G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9556,
          "referenceAllele": "G",
          "start": 9555
        }
      ],
      "hgvs": [
        "NG_007965.1:g.9556G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000733"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.5:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Gly134Ter",
        "hgvsWellDefined": "ENSP00000368079.4:p.Gly134_Arg525delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValAlaGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Gly134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Gly134Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Gly134Ter",
        "hgvsWellDefined": "ENSP00000368079.4:p.Gly134_Arg525delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValAlaGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343732",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.3:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Gly134Ter",
        "hgvsWellDefined": "NP_997235.3:p.Gly134_Arg525delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValAlaGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.2:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Gly134Ter",
        "hgvsWellDefined": "XP_005262992.1:p.Gly134_Arg524delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 864,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_006714184.2:c.18-865G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714247.1:n.18-865G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Gly134Ter",
        "hgvsWellDefined": "XP_005262992.1:p.Gly134_Arg524delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 864,
          "referenceAllele": "G",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_017008037.1:c.18-865G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863526.1:n.18-865G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343732",
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.4:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Gly134Ter",
        "hgvsWellDefined": "NP_997235.3:p.Gly134_Arg525delinsLeuLeuThrSerThrGlyAsnLysTrpArgSerArgArgLysMetLeuThrProThrPheHisPheThrIleLeuGluAspPheLeuAspIleMetAsnGluGlnAlaAsnIleLeuValLysLysLeuGluLysHisIleAsnGlnGluAlaPheAsnCysPhePheTyrIleThrLeuCysAlaLeuAspIleIleCysGluThrAlaMetGlyLysAsnIleGlyAlaGlnSerAsnAspAspSerGluTyrValArgAlaValTyrArgMetSerGluMetIlePheArgArgIleLysMetProTrpLeuTrpLeuAspLeuTrpTyrLeuMetPheLysGluGlyTrpGluHisLysLysSerLeuGlnIleLeuHisThrPheThrAsnSerValIleAlaGluArgAlaAsnGluMetAsnAlaAsnGluAspCysArgGlyAspGlyArgGlySerAlaProSerLysAsnLysArgArgAlaPheLeuAspLeuLeuLeuSerValThrAspAspGluGlyAsnArgLeuSerHisGluAspIleArgGluGluValAspThrPheMetPheGluGlyHisAspThrThrAlaAlaAlaIleAsnTrpSerLeuTyrLeuLeuGlySerAsnProGluValGlnLysLysValAspHisGluLeuAspAspValPheGlyLysSerAspArgProAlaThrValGluAspLeuLysLysLeuArgTyrLeuGluCysValIleLysGluThrLeuArgLeuPheProSerValProLeuPheAlaArgSerValSerGluAspCysGluValAlaGlyTyrArgValLeuLysGlyThrGluAlaValIleIleProTyrAlaLeuHisArgAspProArgTyrPheProAsnProGluGluPheGlnProGluArgPhePheProGluAsnAlaGlnGlyArgHisProTyrAlaTyrValProPheSerAlaGlyProArgAsnCysIleGlyGlnLysPheAlaValMetGluGluLysThrIleLeuSerCysIleLeuArgHisPheTrpIleGluSerAsnGlnLysArgGluGluLeuGlyLeuGluGlyGlnLeuIleLeuArgProSerAsnGlyIleTrpIleLysLeuLysArgArgAsnAlaAspGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.400G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.400G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Gly134Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Gly134Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}