{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255938",
  "communityStandardTitle": [
    "NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26654[alleleid]",
        "alleleId": 26654,
        "preferredName": "NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11615",
        "RCV": [
          "RCV000012381",
          "RCV000504913",
          "RCV001073304",
          "RCV001388118"
        ],
        "variationId": 11615
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49074970G>A?assembly=hg19",
        "id": "chrX:g.49074970G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49218511G>A?assembly=hg38",
        "id": "chrX:g.49218511G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/122456134",
        "rs": 122456134
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49218511-G-A?dataset=gnomad_r4",
        "id": "X-49218511-G-A",
        "variant": "X:49218511 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49218511,
          "referenceAllele": "G",
          "start": 49218510
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49218511G>A",
        "CM000685.2:g.49218511G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 49074970,
          "referenceAllele": "G",
          "start": 49074969
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49074970G>A",
        "CM000685.1:g.49074970G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48961914,
          "referenceAllele": "G",
          "start": 48961913
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48961914G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19856,
          "referenceAllele": "C",
          "start": 19855
        }
      ],
      "hgvs": [
        "NG_009095.2:g.19856C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001428"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2903,
          "referenceAllele": "C",
          "start": 2902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.10:c.2872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.6:p.Arg958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.2872C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.2872C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Arg958Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Arg958Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2934,
          "referenceAllele": "C",
          "start": 2933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000323022.9:c.2872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321618.5:p.Arg958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2710,
          "referenceAllele": "C",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376251.5:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365427.1:p.Arg904Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2967,
          "referenceAllele": "C",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "ENST00000376265.2:c.2905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365441.2:p.Arg969Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2934,
          "referenceAllele": "C",
          "start": 2933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.2:c.2872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Arg958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2772,
          "referenceAllele": "C",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.2:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Arg904Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2967,
          "referenceAllele": "C",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.3:c.2905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Arg969Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.1:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Arg904Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2805,
          "referenceAllele": "C",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_011543983.2:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542285.1:p.Arg904Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "XM_017029836.1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885325.1:p.Arg47Ter",
        "hgvsWellDefined": "XP_016885325.1:p.Arg47_Leu1027delinsValLeuArgValLeuArgProLeuArgAlaIleAsnArgAlaLysGlyLeuLysHisValValGlnCysValPheValAlaIleArgThrIleGlyAsnIleMetIleValThrThrLeuLeuGlnPheMetPheAlaCysIleGlyValGlnLeuPheLysGlyLysPheTyrThrCysThrAspGluAlaLysHisThrProGlnGluCysLysGlySerPheLeuValTyrProAspGlyAspValSerArgProLeuValArgGluArgLeuTrpValAsnSerAspPheAsnPheAspAsnValLeuSerAlaMetMetAlaLeuPheThrValSerThrPheGluGlyTrpProAlaLeuLeuTyrLysAlaIleAspAlaTyrAlaGluAspHisGlyProIleTyrAsnTyrArgValGluIleSerValPhePheIleValTyrIleIleIleIleAlaPhePheMetMetAsnIlePheValGlyPheValIleIleThrPheArgAlaGlnGlyGluGlnGluTyrGlnAsnCysGluLeuAspLysAsnGlnArgGlnCysValGluTyrAlaLeuLysAlaGlnProLeuArgArgTyrIleProLysAsnProHisGlnTyrArgValTrpAlaThrValAsnSerAlaAlaPheGluTyrLeuMetPheLeuLeuIleLeuLeuAsnThrValAlaLeuAlaMetGlnHisTyrGluGlnThrAlaProPheAsnTyrAlaMetAspIleLeuAsnMetValPheThrGlyLeuPheThrIleGluMetValLeuLysIleIleAlaPheLysProLysHisTyrPheThrAspAlaTrpAsnThrPheAspAlaLeuIleValValGlySerIleValAspIleAlaValThrGluValAsnSerSerGluAspSerSerArgIleSerIleThrPhePheArgLeuPheArgValMetArgLeuValLysLeuLeuSerLysGlyGluGlyIleArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleAlaMetIlePhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysValAlaLeuGlnAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleMetLeuAlaSerLeuProGlyAsnArgCysAspProGluSerAspPheGlyProGlyGluGluPheThrCysGlySerAsnPheAlaIleAlaTyrPheIleSerPhePheMetLeuCysAlaPheLeuIleIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysArgIleTrpSerGluTyrAspProGlyAlaLysGlyArgIleLysHisLeuAspValValAlaLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysLeuCysProHisArgValAlaCysLysArgLeuValAlaMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrSerLeuLysIleLysThrGluGlyAsnLeuGluGlnAlaAsnGlnGluLeuArgIleValIleLysLysIleTrpLysArgMetLysGlnLysLeuLeuAspGluValIleProProProAspGluGluGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnAspTyrPheArgLysPheArgArgArgLysGluLysGlyLeuLeuGlyAsnAspAlaAlaProSerThrSerSerAlaLeuGlnAlaGlyLeuArgSerLeuGlnAspLeuGlyProGluMetArgGlnAlaLeuThrCysAspThrGluGluGluGluGluGluGlyGlnGluGlyValGluGluGluAspGluLysAspLeuGluThrAsnLysAlaThrMetValSerGlnProSerAlaArgArgGlySerGlyIleSerValSerLeuProValGlyAspArgLeuProAspSerLeuSerPheGlyProSerAspAspAspArgGlyThrProThrSerSerGlnProSerValProGlnAlaGlySerAsnThrHisArgArgGlySerGlyAlaLeuIlePheThrIleProGluGluGlyAsnSerGlnProLysGlyThrLysGlyGlnAsnLysGlnAspGluAspGluGluValProAspArgAlaGlnArgTyrMetAspGlyHisLeuValProArgArgArgLeuLeuProProThrProAlaGlyArgLysProSerPheThrIleGlnCysLeuGlnArgGlnGlySerCysGluAspLeuProIleProGlyThrTyrHisArgGlyArgAsnSerGlyProAsnArgAlaGlnGlySerTrpAlaThrProProGlnArgGlyArgLeuLeuTyrAlaProLeuLeuLeuValGluGluGlyAlaAlaGlyGluGlyTyrLeuGlyArgSerSerGlyProLeuArgThrPheThrCysLeuHisValProGlyThrHisSerAspProSerHisGlyLysArgGlySerAlaAspSerLeuValGluAlaValLeuIleSerGluGlyLeuGlyLeuPheAlaArgAspProArgPheValAlaLeuAlaLysGlnGluIleAlaAspAlaCysArgLeuThrLeuAspGluMetAspAsnAlaAlaSerAspLeuLeuAlaGlnGlyThrSerSerLeuTyrSerAspGluGluSerIleLeuSerArgPheAspGluGluAspLeuGlyAspGluMetAlaCysValHisAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2903,
          "referenceAllele": "C",
          "start": 2902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256789.3:c.2872C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243718.1:p.Arg958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323022.10:c.2872C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256789.3:c.2872C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000321618.6:p.Arg958Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001243718.1:p.Arg958Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_001256790.3:c.2710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243719.1:p.Arg904Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001393",
      "geneNCBI_id": 778,
      "geneSymbol": "CACNA1F",
      "hgvs": [
        "NM_005183.4:c.2905C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005174.2:p.Arg969Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696344"
    }
  ],
  "type": "nucleotide"
}