{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA432273146", "communityStandardTitle": [ "NM_002880.4(RAF1):c.1275G>A (p.Glu425=)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3586954", "active": true, "id": "COSM3586954" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3586955", "active": true, "id": "COSM3586955" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12632392C>T?assembly=hg19", "id": "chr3:g.12632392C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2058493684", "rs": 2058493684 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12590893, "referenceAllele": "C", "start": 12590892 } ], "hgvs": [ "NC_000003.12:g.12590893C>T", "CM000665.2:g.12590893C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12632392, "referenceAllele": "C", "start": 12632391 } ], "hgvs": [ "NC_000003.11:g.12632392C>T", "CM000665.1:g.12632392C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12607392, "referenceAllele": "C", "start": 12607391 } ], "hgvs": [ "NC_000003.10:g.12607392C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 78287, "referenceAllele": "G", "start": 78286 } ], "hgvs": [ "NG_007467.1:g.78287G>A", "LRG_413:g.78287G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*940G>A" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*940G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.592G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "G", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000460610.2:n.69G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825107" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.866G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000475353.2:n.1197G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825257" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000494557.2:n.1086G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825452" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "G", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "A", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.1176G>A" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "G", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.*239G>A" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:n.*239G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "A", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.2326G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "A", "end": 1638, "referenceAllele": "G", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1638G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "A", "end": 1576, "referenceAllele": "G", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "A", "end": 1511, "referenceAllele": "G", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.1511G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "A", "end": 1665, "referenceAllele": "G", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.*209G>A" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:n.*209G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "A", "end": 1393, "referenceAllele": "G", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.1393G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "G", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.1164G>A" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Glu388=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1652G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "A", "end": 1871, "referenceAllele": "G", "start": 1870 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1871G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.708G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "A", "end": 1601, "referenceAllele": "G", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1601G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.1176G>A" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*853G>A" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*853G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "A", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.1506G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "A", "end": 261, "referenceAllele": "G", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688914.1:n.261G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831888" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "A", "end": 1527, "endIntronDirection": "+", "endIntronOffset": 815, "referenceAllele": "G", "start": 1527, "startIntronDirection": "+", "startIntronOffset": 814 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.1193+815G>A" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:n.1193+815G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "A", "end": 1498, "referenceAllele": "G", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "A", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.1425G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "G", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "A", "end": 1678, "referenceAllele": "G", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.*209G>A" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:n.*209G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "A", "end": 1495, "referenceAllele": "G", "start": 1494 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.1164G>A" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Glu388=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "G", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Glu421=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690585.1:c.167G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832773" }, { "coordinates": [ { "allele": "A", "end": 2311, "referenceAllele": "G", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.2311G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*1127G>A" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*1127G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.*232G>A" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:n.*232G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*853G>A" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*853G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "G", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691888.1:c.167G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833431" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692069.1:n.1841G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833529" }, { "coordinates": [ { "allele": "A", "end": 1609, "referenceAllele": "G", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.1176G>A" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "A", "end": 2099, "referenceAllele": "G", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.2099G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "A", "end": 1640, "referenceAllele": "G", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1640G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "G", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*1012G>A" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*1012G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "A", "end": 1256, "referenceAllele": "G", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*1020G>A" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*1020G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.*209G>A" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:n.*209G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "A", "end": 1351, "referenceAllele": "G", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.1050G>A" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Glu350=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "A", "end": 1584, "referenceAllele": "G", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "A", "end": 1606, "referenceAllele": "G", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.1275G>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.1275G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Glu425=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Glu425=" } } } }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.1335G>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Glu445=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "A", "end": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.1275G>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "A", "end": 1501, "referenceAllele": "G", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*952G>A" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*952G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.912G>A" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Glu304=" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.1335G>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Glu445=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000460610.1:n.232G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305307" }, { "coordinates": [ { "allele": "A", "end": 632, "referenceAllele": "G", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.5:n.632G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309348" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000475353.1:n.443G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316658" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000494557.1:n.291G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331453" }, { "@id": "http://reg.genome.network/allele/PA3068369623", "coordinates": [ { "allele": "A", "end": 1690, "referenceAllele": "G", "start": 1689 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.1275G>A", "LRG_413t1:c.1275G>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.1275G>A" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.1176G>A" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.1032G>A" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "A", "end": 1473, "referenceAllele": "G", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.933G>A" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Glu311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "A", "end": 1606, "referenceAllele": "G", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.1275G>A" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "A", "end": 1731, "referenceAllele": "G", "start": 1730 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.1275G>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "G", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.1032G>A" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.1335G>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Glu445=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.1275G>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "coordinates": [ { "allele": "A", "end": 1577, "referenceAllele": "G", "start": 1576 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.1176G>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "G", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.1092G>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Glu364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "G", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.933G>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Glu311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "A", "end": 1803, "referenceAllele": "G", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1803G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "A", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1749G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "A", "end": 1688, "referenceAllele": "G", "start": 1687 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1688G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "A", "end": 1699, "referenceAllele": "G", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.1275G>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.1176G>A" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.1335G>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Glu445=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.1275G>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "coordinates": [ { "allele": "A", "end": 1586, "referenceAllele": "G", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.1176G>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.1092G>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Glu364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "coordinates": [ { "allele": "A", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.933G>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Glu311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "G", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1719G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "A", "end": 1665, "referenceAllele": "G", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1665G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1604G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "G", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.1275G>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "coordinates": [ { "allele": "A", "end": 1586, "referenceAllele": "G", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "coordinates": [ { "allele": "A", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.1032G>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Glu344=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "G", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.1176G>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Glu392=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "G", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.1092G>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Glu364=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "coordinates": [ { "allele": "A", "end": 1394, "referenceAllele": "G", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.933G>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Glu311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA3068369623", "coordinates": [ { "allele": "A", "end": 1606, "referenceAllele": "G", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.1275G>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Glu425=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.1275G>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.1275G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Glu425=" }, "RefSeq": { "hgvs": "NP_002871.1:p.Glu425=" } } } }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "G", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1719G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "A", "end": 1665, "referenceAllele": "G", "start": 1664 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1665G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1604G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }