{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415189739",
  "communityStandardTitle": [
    "NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=789398[alleleid]",
        "alleleId": 789398,
        "preferredName": "NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801015",
        "RCV": [
          "RCV000985242"
        ],
        "variationId": 801015
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153580611C>A?assembly=hg19",
        "id": "chrX:g.153580611C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154352243C>A?assembly=hg38",
        "id": "chrX:g.154352243C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1603359091",
        "rs": 1603359091
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154352243,
          "referenceAllele": "C",
          "start": 154352242
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154352243C>A",
        "CM000685.2:g.154352243C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153580611,
          "referenceAllele": "C",
          "start": 153580610
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153580611C>A",
        "CM000685.1:g.153580611C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153233805,
          "referenceAllele": "C",
          "start": 153233804
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153233805C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27396,
          "referenceAllele": "G",
          "start": 27395
        }
      ],
      "hgvs": [
        "NG_011506.1:g.27396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27396,
          "referenceAllele": "G",
          "start": 27395
        }
      ],
      "hgvs": [
        "NG_011506.2:g.27396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6721,
          "referenceAllele": "G",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000360319.9:c.6683G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353467.4:p.Gly2228Val",
        "hgvsWellDefined": "ENSP00000353467.4:p.Gly2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6952,
          "referenceAllele": "G",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369850.10:c.6707G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358866.3:p.Gly2236Val",
        "hgvsWellDefined": "ENSP00000358866.3:p.Gly2236Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750489",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369850.10:c.6707G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110556.2:c.6707G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358866.3:p.Gly2236Val"
          },
          "RefSeq": {
            "hgvs": "NP_001104026.1:p.Gly2236Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6684,
          "referenceAllele": "G",
          "start": 6683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369856.8:c.6626G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358872.4:p.Gly2209Val",
        "hgvsWellDefined": "ENSP00000358872.4:p.Gly2209Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "G",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000422373.6:c.3488G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416926.2:p.Gly1163Val",
        "hgvsWellDefined": "ENSP00000416926.2:p.Gly1163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6764,
          "referenceAllele": "G",
          "start": 6763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000610817.5:c.6764G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480593.2:n.6764G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 3552,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000673639.2:c.280-3553G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6986,
          "referenceAllele": "G",
          "start": 6985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000676696.1:c.6986G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503392.1:n.6986G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000678304.1:n.1886G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6630,
          "referenceAllele": "G",
          "start": 6629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000344736.8:c.6587G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358863.3:p.Gly2196Val",
        "hgvsWellDefined": "ENSP00000358863.3:p.Gly2196Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6721,
          "referenceAllele": "G",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000360319.8:c.6683G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353467.4:p.Gly2228Val",
        "hgvsWellDefined": "ENSP00000353467.4:p.Gly2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6944,
          "referenceAllele": "G",
          "start": 6943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369850.7:c.6707G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358866.3:p.Gly2236Val",
        "hgvsWellDefined": "ENSP00000358866.3:p.Gly2236Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6684,
          "referenceAllele": "G",
          "start": 6683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000369856.7:c.6626G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358872.4:p.Gly2209Val",
        "hgvsWellDefined": "ENSP00000358872.4:p.Gly2209Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6663,
          "referenceAllele": "G",
          "start": 6662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000420627.5:c.6663G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408921.1:n.6663G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6932,
          "referenceAllele": "G",
          "start": 6931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000422373.5:c.6683G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416926.1:p.Gly2228Val",
        "hgvsWellDefined": "ENSP00000416926.1:p.Gly2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000444578.1:c.527G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397824.1:p.Gly176Val",
        "hgvsWellDefined": "ENSP00000397824.1:p.Gly176Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000474358.5:n.340G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2696,
          "referenceAllele": "G",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000490936.5:n.2696G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 574,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000498411.1:n.67+574G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6174,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "G",
          "start": 6174,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "ENST00000610817.4:c.5845-293G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480593.1:n.5845-293G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974625",
      "coordinates": [
        {
          "allele": "T",
          "end": 6956,
          "referenceAllele": "G",
          "start": 6955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001110556.1:c.6707G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104026.1:p.Gly2236Val",
        "hgvsWellDefined": "NP_001104026.1:p.Gly2236Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829328359",
      "coordinates": [
        {
          "allele": "T",
          "end": 6932,
          "referenceAllele": "G",
          "start": 6931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001456.3:c.6683G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001447.2:p.Gly2228Val",
        "hgvsWellDefined": "NP_001447.2:p.Gly2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6855,
          "referenceAllele": "G",
          "start": 6854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531127.1:c.6611G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529429.1:p.Gly2204Val",
        "hgvsWellDefined": "XP_011529429.1:p.Gly2204Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6831,
          "referenceAllele": "G",
          "start": 6830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531128.1:c.6587G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529430.1:p.Gly2196Val",
        "hgvsWellDefined": "XP_011529430.1:p.Gly2196Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6777,
          "referenceAllele": "G",
          "start": 6776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531129.1:c.6533G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529431.1:p.Gly2178Val",
        "hgvsWellDefined": "XP_011529431.1:p.Gly2178Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6753,
          "referenceAllele": "G",
          "start": 6752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531130.1:c.6509G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529432.1:p.Gly2170Val",
        "hgvsWellDefined": "XP_011529432.1:p.Gly2170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6750,
          "referenceAllele": "G",
          "start": 6749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "XM_011531131.1:c.6506G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529433.1:p.Gly2169Val",
        "hgvsWellDefined": "XP_011529433.1:p.Gly2169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974625",
      "coordinates": [
        {
          "allele": "T",
          "end": 6952,
          "referenceAllele": "G",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001110556.2:c.6707G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104026.1:p.Gly2236Val",
        "hgvsWellDefined": "NP_001104026.1:p.Gly2236Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369850.10:c.6707G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110556.2:c.6707G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358866.3:p.Gly2236Val"
          },
          "RefSeq": {
            "hgvs": "NP_001104026.1:p.Gly2236Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829328359",
      "coordinates": [
        {
          "allele": "T",
          "end": 6928,
          "referenceAllele": "G",
          "start": 6927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003754",
      "geneNCBI_id": 2316,
      "geneSymbol": "FLNA",
      "hgvs": [
        "NM_001456.4:c.6683G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001447.2:p.Gly2228Val",
        "hgvsWellDefined": "NP_001447.2:p.Gly2228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727183"
    }
  ],
  "type": "nucleotide"
}