{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253860",
  "communityStandardTitle": [
    "NM_001457.4(FLNB):c.703T>C (p.Ser235Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21443[alleleid]",
        "alleleId": 21443,
        "preferredName": "NM_001457.4(FLNB):c.703T>C (p.Ser235Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6404",
        "RCV": [
          "RCV000006775"
        ],
        "variationId": 6404
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.58067419T>C?assembly=hg19",
        "id": "chr3:g.58067419T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.58081692T>C?assembly=hg38",
        "id": "chr3:g.58081692T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908896",
        "rs": 121908896
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 58081692,
          "referenceAllele": "T",
          "start": 58081691
        }
      ],
      "hgvs": [
        "NC_000003.12:g.58081692T>C",
        "CM000665.2:g.58081692T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 58067419,
          "referenceAllele": "T",
          "start": 58067418
        }
      ],
      "hgvs": [
        "NC_000003.11:g.58067419T>C",
        "CM000665.1:g.58067419T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 58042459,
          "referenceAllele": "T",
          "start": 58042458
        }
      ],
      "hgvs": [
        "NC_000003.10:g.58042459T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78293,
          "referenceAllele": "T",
          "start": 78292
        }
      ],
      "hgvs": [
        "NG_012801.1:g.78293T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002539"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "T",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682097.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508183.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000508183.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682868.1:n.846T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682871.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507805.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000507805.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682987.1:n.846T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000683511.1:n.862T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684107.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507440.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000507440.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684506.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507728.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000507728.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684517.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507828.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000507828.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684607.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508224.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000508224.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000295956.9:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295956.5:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000295956.5:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295956.9:c.703T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001457.4:c.703T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295956.5:p.Ser235Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001448.2:p.Ser235Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000295956.8:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295956.4:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000295956.4:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000358537.7:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351339.3:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000351339.3:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000429972.6:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415599.2:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000415599.2:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000490882.5:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420213.1:p.Ser235Pro",
        "hgvsWellDefined": "ENSP00000420213.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 353,
          "referenceAllele": "T",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000493452.5:c.196T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418510.1:p.Ser66Pro",
        "hgvsWellDefined": "ENSP00000418510.1:p.Ser66Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825973519",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164317.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157789.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157789.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825974561",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164318.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157790.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157790.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825976051",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164319.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157791.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157791.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096522",
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001457.3:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001448.2:p.Ser235Pro",
        "hgvsWellDefined": "NP_001448.2:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264977.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265034.1:p.Ser235Pro",
        "hgvsWellDefined": "XP_005265034.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264978.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265035.1:p.Ser235Pro",
        "hgvsWellDefined": "XP_005265035.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264981.1:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265038.1:p.Ser235Pro",
        "hgvsWellDefined": "XP_005265038.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_940396.1:n.848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264978.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265035.1:p.Ser235Pro",
        "hgvsWellDefined": "XP_005265035.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_001740065.1:n.848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_940396.2:n.848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825973519",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164317.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157789.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157789.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825974561",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164318.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157790.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157790.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825976051",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164319.2:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157791.1:p.Ser235Pro",
        "hgvsWellDefined": "NP_001157791.1:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096522",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001457.4:c.703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001448.2:p.Ser235Pro",
        "hgvsWellDefined": "NP_001448.2:p.Ser235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295956.9:c.703T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001457.4:c.703T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295956.5:p.Ser235Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001448.2:p.Ser235Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}