{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10603005",
  "communityStandardTitle": [
    "NM_001453.3(FOXC1):c.456G>A (p.Trp152Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264290[alleleid]",
        "alleleId": 264290,
        "preferredName": "NM_001453.3(FOXC1):c.456G>A (p.Trp152Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280066",
        "RCV": [
          "RCV000330423"
        ],
        "variationId": 280066
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1611136G>A?assembly=hg19",
        "id": "chr6:g.1611136G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.1610901G>A?assembly=hg38",
        "id": "chr6:g.1610901G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041355",
        "rs": 886041355
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 1610901,
          "referenceAllele": "G",
          "start": 1610900
        }
      ],
      "hgvs": [
        "NC_000006.12:g.1610901G>A",
        "CM000668.2:g.1610901G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 1611136,
          "referenceAllele": "G",
          "start": 1611135
        }
      ],
      "hgvs": [
        "NC_000006.11:g.1611136G>A",
        "CM000668.1:g.1611136G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 1556135,
          "referenceAllele": "G",
          "start": 1556134
        }
      ],
      "hgvs": [
        "NC_000006.10:g.1556135G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5456,
          "referenceAllele": "G",
          "start": 5455
        }
      ],
      "hgvs": [
        "NG_009368.1:g.5456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001576"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000645831.2:c.456G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493906.1:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000493906.1:p.Trp152_Phe553delinsThrLeuAspProAspSerTyrAsnMetPheGluAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.456G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.456G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Trp152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Trp152Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "ENST00000380874.3:c.456G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370256.2:p.Trp152Ter",
        "hgvsWellDefined": "ENSP00000370256.2:p.Trp152_Phe553delinsThrLeuAspProAspSerTyrAsnMetPheGluAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645392815",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.2:c.456G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Trp152Ter",
        "hgvsWellDefined": "NP_001444.2:p.Trp152_Phe553delinsThrLeuAspProAspSerTyrAsnMetPheGluAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645392815",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003800",
      "geneNCBI_id": 2296,
      "geneSymbol": "FOXC1",
      "hgvs": [
        "NM_001453.3:c.456G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001444.2:p.Trp152Ter",
        "hgvsWellDefined": "NP_001444.2:p.Trp152_Phe553delinsThrLeuAspProAspSerTyrAsnMetPheGluAsnGlySerPheLeuArgArgArgArgArgPheLysLysLysAspAlaValLysAspLysGluGluLysAspArgLeuHisLeuLysGluProProProProGlyArgGlnProProProAlaProProGluGlnAlaAspGlyAsnAlaProGlyProGlnProProProValArgIleGlnAspIleLysThrGluAsnGlyThrCysProSerProProGlnProLeuSerProAlaAlaAlaLeuGlySerGlySerAlaAlaAlaValProLysIleGluSerProAspSerSerSerSerSerLeuSerSerGlySerSerProProGlySerLeuProSerAlaArgProLeuSerLeuAspGlyAlaAspSerAlaProProProProAlaProSerAlaProProProHisHisSerGlnGlyPheSerValAspAsnIleMetThrSerLeuArgGlySerProGlnSerAlaAlaAlaGluLeuSerSerGlyLeuLeuAlaSerAlaAlaAlaSerSerArgAlaGlyIleAlaProProLeuAlaLeuGlyAlaTyrSerProGlyGlnSerSerLeuTyrSerSerProCysSerGlnThrSerSerAlaGlySerSerGlyGlyGlyGlyGlyGlyAlaGlyAlaAlaGlyGlyAlaGlyGlyAlaGlyThrTyrHisCysAsnLeuGlnAlaMetSerLeuTyrAlaAlaGlyGluArgGlyGlyHisLeuGlnGlyAlaProGlyGlyAlaGlyGlySerAlaValAspAspProLeuProAspTyrSerLeuProProValThrSerSerSerSerSerSerLeuSerHisGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlnGluAlaGlyHisHisProAlaAlaHisGlnGlyArgLeuThrSerTrpTyrLeuAsnGlnAlaGlyGlyAspLeuGlyHisLeuAlaSerAlaAlaAlaAlaAlaAlaAlaAlaGlyTyrProGlyGlnGlnGlnAsnPheHisSerValArgGluMetPheGluSerGlnArgIleGlyLeuAsnAsnSerProValAsnGlyAsnSerSerCysGlnMetAlaPheProSerSerGlnSerLeuTyrArgThrSerGlyAlaPheValTyrAspCysSerLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645831.2:c.456G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001453.3:c.456G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493906.1:p.Trp152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001444.2:p.Trp152Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}