{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044265",
  "communityStandardTitle": [
    "NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362202[alleleid]",
        "alleleId": 362202,
        "preferredName": "NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375426",
        "RCV": [
          "RCV002272227"
        ],
        "variationId": 375426
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611167G>T?assembly=hg19",
        "id": "chr6:g.1611167G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1610932G>T?assembly=hg38",
        "id": "chr6:g.1610932G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519477",
        "rs": 1057519477
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 1610932,
          "referenceAllele": "G",
          "start": 1610931
        }
      ],
      "hgvs": [
        "NC_000006.12:g.1610932G>T",
        "CM000668.2:g.1610932G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 1611167,
          "referenceAllele": "G",
          "start": 1611166
        }
      ],
      "hgvs": [
        "NC_000006.11:g.1611167G>T",
        "CM000668.1:g.1611167G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 1556166,
          "referenceAllele": "G",
          "start": 1556165
        }
      ],
      "hgvs": [
        "NC_000006.10:g.1556166G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5487,
          "referenceAllele": "G",
          "start": 5486
        }
      ],
      "hgvs": [
        "NG_009368.1:g.5487G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000645831.2:c.487G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493906.1:p.Glu163Ter",
        "hgvsWellDefined": "ENSP00000493906.1:p.Glu163_Phe553delinsAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.487G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.487G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Glu163Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Glu163Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000380874.3:c.487G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370256.2:p.Glu163Ter",
        "hgvsWellDefined": "ENSP00000370256.2:p.Glu163_Phe553delinsAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510617",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.2:c.487G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Glu163Ter",
        "hgvsWellDefined": "NP_001444.2:p.Glu163_Phe553delinsAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.3:c.487G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Glu163Ter",
        "hgvsWellDefined": "NP_001444.2:p.Glu163_Phe553delinsAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.487G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.487G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Glu163Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Glu163Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}