{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA432274264", "communityStandardTitle": [ "NM_002880.4(RAF1):c.831T>C (p.Ile277=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1638668[alleleid]", "alleleId": 1638668, "preferredName": "NM_002880.4(RAF1):c.831T>C (p.Ile277=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1575384", "RCV": [ "RCV002075071" ], "variationId": 1575384 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12645638A>G?assembly=hg19", "id": "chr3:g.12645638A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2125396939", "rs": 2125396939 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 12604139, "referenceAllele": "A", "start": 12604138 } ], "hgvs": [ "NC_000003.12:g.12604139A>G", "CM000665.2:g.12604139A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 12645638, "referenceAllele": "A", "start": 12645637 } ], "hgvs": [ "NC_000003.11:g.12645638A>G", "CM000665.1:g.12645638A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 12620638, "referenceAllele": "A", "start": 12620637 } ], "hgvs": [ "NC_000003.10:g.12620638A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "C", "end": 65041, "referenceAllele": "T", "start": 65040 } ], "hgvs": [ "NG_007467.1:g.65041T>C", "LRG_413:g.65041T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 798, "referenceAllele": "T", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.2:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000391265.2:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824657" }, { "coordinates": [ { "allele": "C", "end": 1031, "referenceAllele": "T", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "C", "end": 151, "referenceAllele": "T", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.151T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "C", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.422T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "T", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1208T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "C", "end": 1067, "referenceAllele": "T", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "C", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "C", "end": 2536, "referenceAllele": "T", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "C", "end": 960, "referenceAllele": "T", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685959.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000510452.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830326" }, { "coordinates": [ { "allele": "C", "end": 1431, "referenceAllele": "T", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.1431T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "C", "end": 1194, "referenceAllele": "T", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1194T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "C", "end": 1202, "referenceAllele": "T", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686479.1:n.1202T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS830600" }, { "coordinates": [ { "allele": "C", "end": 1132, "referenceAllele": "T", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "C", "end": 1067, "referenceAllele": "T", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.1067T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "C", "end": 151, "referenceAllele": "T", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.151T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "C", "end": 949, "referenceAllele": "T", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.949T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "C", "end": 1057, "referenceAllele": "T", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "T", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1208T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "C", "end": 1439, "referenceAllele": "T", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1439T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "C", "end": 151, "referenceAllele": "T", "start": 150 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.151T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "C", "end": 1157, "referenceAllele": "T", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1157T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "C", "end": 922, "referenceAllele": "T", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*409T>C" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*409T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "C", "end": 1062, "referenceAllele": "T", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.1062T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "C", "end": 1045, "referenceAllele": "T", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689033.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000508983.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831951" }, { "coordinates": [ { "allele": "C", "end": 891, "referenceAllele": "T", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "C", "end": 1165, "referenceAllele": "T", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "C", "end": 1054, "referenceAllele": "T", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "C", "end": 851, "referenceAllele": "T", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "C", "end": 981, "referenceAllele": "T", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.981T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "C", "end": 1158, "referenceAllele": "T", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "C", "end": 1175, "referenceAllele": "T", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "C", "end": 1134, "referenceAllele": "T", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1134T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "C", "end": 261, "endIntronDirection": "-", "endIntronOffset": 3723, "referenceAllele": "T", "start": 261, "startIntronDirection": "-", "startIntronOffset": 3724 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.262-3724T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "C", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*624T>C" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*624T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "C", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "C", "end": 958, "referenceAllele": "T", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*409T>C" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*409T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "C", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "C", "end": 1165, "referenceAllele": "T", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "C", "end": 1204, "referenceAllele": "T", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1204T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "C", "end": 1196, "referenceAllele": "T", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1196T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "C", "end": 1022, "referenceAllele": "T", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "C", "end": 812, "referenceAllele": "T", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*576T>C" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*576T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "C", "end": 758, "referenceAllele": "T", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.732T>C" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "C", "end": 907, "referenceAllele": "T", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.606T>C" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Ile202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "C", "end": 1140, "referenceAllele": "T", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "C", "end": 818, "referenceAllele": "T", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.831T>C" }, "RefSeq": { "hgvs": "NM_002880.4:c.831T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ile277=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ile277=" } } } }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "C", "end": 1271, "referenceAllele": "T", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "C", "end": 958, "referenceAllele": "T", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*409T>C" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*409T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "C", "end": 1057, "referenceAllele": "T", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*508T>C" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*508T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "C", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.468T>C" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Ile156=" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "T", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.831T>C" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "C", "end": 75, "referenceAllele": "T", "start": 74 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.5:n.75T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS309348" }, { "coordinates": [ { "allele": "C", "end": 352, "referenceAllele": "T", "start": 351 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.1:n.352T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS328920" }, { "@id": "http://reg.genome.network/allele/PA2829394709", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.831T>C", "LRG_413t1:c.831T>C" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "C", "end": 974, "referenceAllele": "T", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.831T>C" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.732T>C" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "C", "end": 1128, "referenceAllele": "T", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.588T>C" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "C", "end": 1029, "referenceAllele": "T", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.489T>C" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Ile163=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.831T>C" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "C", "end": 1287, "referenceAllele": "T", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.831T>C" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "C", "end": 1174, "referenceAllele": "T", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.588T>C" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "@id": "http://reg.genome.network/allele/PA2827917139", "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.831T>C" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "@id": "http://reg.genome.network/allele/PA2827917557", "coordinates": [ { "allele": "C", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.831T>C" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "@id": "http://reg.genome.network/allele/PA2827918161", "coordinates": [ { "allele": "C", "end": 1226, "referenceAllele": "T", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "@id": "http://reg.genome.network/allele/PA2827918765", "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "@id": "http://reg.genome.network/allele/PA2827919418", "coordinates": [ { "allele": "C", "end": 1147, "referenceAllele": "T", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.732T>C" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "@id": "http://reg.genome.network/allele/PA2827920023", "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "@id": "http://reg.genome.network/allele/PA2827920531", "coordinates": [ { "allele": "C", "end": 1034, "referenceAllele": "T", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.489T>C" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ile163=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1246T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1246T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "C", "end": 1246, "referenceAllele": "T", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1246T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "C", "end": 1255, "referenceAllele": "T", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.831T>C" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "C", "end": 851, "referenceAllele": "T", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.732T>C" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.1063T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "@id": "http://reg.genome.network/allele/PA2827917139", "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.831T>C" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "@id": "http://reg.genome.network/allele/PA2827917557", "coordinates": [ { "allele": "C", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.831T>C" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "@id": "http://reg.genome.network/allele/PA2827918161", "coordinates": [ { "allele": "C", "end": 1142, "referenceAllele": "T", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "@id": "http://reg.genome.network/allele/PA2827918765", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "@id": "http://reg.genome.network/allele/PA2827919418", "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.732T>C" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "@id": "http://reg.genome.network/allele/PA2827920023", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "@id": "http://reg.genome.network/allele/PA2827920531", "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "T", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.489T>C" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ile163=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "@id": "http://reg.genome.network/allele/PA2827917557", "coordinates": [ { "allele": "C", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.831T>C" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "@id": "http://reg.genome.network/allele/PA2827918161", "coordinates": [ { "allele": "C", "end": 1142, "referenceAllele": "T", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "@id": "http://reg.genome.network/allele/PA2827918765", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "@id": "http://reg.genome.network/allele/PA2827919418", "coordinates": [ { "allele": "C", "end": 1063, "referenceAllele": "T", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.732T>C" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ile244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "@id": "http://reg.genome.network/allele/PA2827920023", "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.588T>C" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ile196=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "@id": "http://reg.genome.network/allele/PA2827920531", "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "T", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.489T>C" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ile163=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA2829394709", "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.831T>C" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ile277=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.831T>C" }, "RefSeq": { "hgvs": "NM_002880.4:c.831T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ile277=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ile277=" } } } }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "T", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1162T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }