Linked Data
ClinVar Variation Id:
343099
dbSNP Id:
rs528863135
gnomAD v2:
3-12625823-C-T
gnomAD v3:
3-12584324-C-T
gnomAD v4:
3-12584324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584324C>T , CM000665.2:g.12584324C>T | GRCh38 |
| NC_000003.11:g.12625823C>T , CM000665.1:g.12625823C>T | GRCh37 |
| NC_000003.10:g.12600823C>T | NCBI36 |
| NG_007467.1:g.84856G>A , LRG_413:g.84856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1802G>A (RAF1) | ENSP00000401088.1:n.*1802G>A | |
| ENST00000432427.3:c.1454G>A (RAF1) | ||
| ENST00000460610.2:n.6449G>A (RAF1) | ||
| ENST00000471449.2:n.947G>A (RAF1) | ||
| ENST00000475353.2:n.4417G>A (RAF1) | ||
| ENST00000684903.1:c.*1814G>A (RAF1) | ENSP00000508612.1:n.*1814G>A | |
| ENST00000685348.1:c.*1848G>A (RAF1) | ENSP00000510285.1:n.*1848G>A | |
| ENST00000685437.1:c.*190G>A (RAF1) | ENSP00000508794.1:n.*190G>A | |
| ENST00000685653.1:c.*190G>A (RAF1) | ENSP00000509968.1:n.*190G>A | |
| ENST00000685697.1:n.2872G>A (RAF1) | ||
| ENST00000685738.1:c.*1101G>A (RAF1) | ENSP00000510156.1:n.*1101G>A | |
| ENST00000686409.1:n.5546G>A (RAF1) | ||
| ENST00000686455.1:n.4858G>A (RAF1) | ||
| ENST00000686762.1:c.*696G>A (RAF1) | ENSP00000509767.1:n.*696G>A | |
| ENST00000687257.1:n.4591G>A (RAF1) | ||
| ENST00000687326.1:c.*3429G>A (RAF1) | ENSP00000509665.1:n.*3429G>A | |
| ENST00000687505.1:n.2255G>A (RAF1) | ||
| ENST00000687923.1:c.*190G>A (RAF1) | ENSP00000510255.1:n.*190G>A | |
| ENST00000688269.1:n.2733G>A (RAF1) | ||
| ENST00000688444.1:n.4254G>A (RAF1) | ||
| ENST00000688543.1:c.*190G>A (RAF1) | ENSP00000509612.1:n.*190G>A | |
| ENST00000688625.1:c.*3506G>A (RAF1) | ENSP00000509522.1:n.*3506G>A | |
| ENST00000688803.1:n.3565G>A (RAF1) | ||
| ENST00000689097.1:c.*1814G>A (RAF1) | ENSP00000509756.1:n.*1814G>A | |
| ENST00000689389.1:c.*190G>A (RAF1) | ENSP00000510213.1:n.*190G>A | |
| ENST00000689418.1:c.*4032G>A (RAF1) | ENSP00000509467.1:n.*4032G>A | |
| ENST00000689540.1:n.4505G>A (RAF1) | ||
| ENST00000689876.1:c.*686G>A (RAF1) | ENSP00000508535.1:n.*686G>A | |
| ENST00000689914.1:c.*1071G>A (RAF1) | ENSP00000509847.1:n.*1071G>A | |
| ENST00000690397.1:c.*190G>A (RAF1) | ENSP00000508730.1:n.*190G>A | |
| ENST00000690460.1:c.*190G>A (RAF1) | ENSP00000509106.1:n.*190G>A | |
| ENST00000690585.1:c.863G>A (RAF1) | ||
| ENST00000690625.1:n.3173G>A (RAF1) | ||
| ENST00000691396.1:c.*2009G>A (RAF1) | ENSP00000510712.1:n.*2009G>A | |
| ENST00000691643.1:n.3190G>A (RAF1) | ||
| ENST00000691724.1:c.*1094G>A (RAF1) | ENSP00000509255.1:n.*1094G>A | |
| ENST00000691779.1:c.*1715G>A (RAF1) | ENSP00000508592.1:n.*1715G>A | |
| ENST00000691888.1:c.1011G>A (RAF1) | ||
| ENST00000691899.1:c.*190G>A (RAF1) | ENSP00000508763.1:n.*190G>A | |
| ENST00000692069.1:n.5061G>A (RAF1) | ||
| ENST00000692093.1:c.*190G>A (RAF1) | ENSP00000509669.1:n.*190G>A | |
| ENST00000692311.1:n.2961G>A (RAF1) | ||
| ENST00000692558.1:n.4720G>A (RAF1) | ||
| ENST00000692773.1:c.*1874G>A (RAF1) | ENSP00000509055.1:n.*1874G>A | |
| ENST00000692830.1:c.*1882G>A (RAF1) | ENSP00000509461.1:n.*1882G>A | |
| ENST00000693312.1:c.*190G>A (RAF1) | ENSP00000508686.1:n.*190G>A | |
| ENST00000693664.1:c.*588G>A (RAF1) | ENSP00000509614.1:n.*588G>A | |
| ENST00000693705.1:c.*1516G>A (RAF1) | ENSP00000510697.1:n.*1516G>A | |
| ENST00000251849.9:c.*190G>A (RAF1) MANE Select | ENSP00000251849.4:n.*190G>A | |
| ENST00000442415.7:c.*190G>A (RAF1) | ENSP00000401888.2:n.*190G>A | |
| ENST00000676541.1:c.*2071C>T (MKRN2) | ENSP00000503730.1:n.*2071C>T | |
| ENST00000677142.1:c.*2071C>T (MKRN2) | ENSP00000504455.1:n.*2071C>T | |
| ENST00000677816.1:c.*626C>T (MKRN2) | ENSP00000502893.1:n.*626C>T | |
| ENST00000677941.1:n.2134C>T (MKRN2) | ||
| ENST00000251849.8:c.*190G>A (RAF1) | ENSP00000251849.4:n.*190G>A | |
| ENST00000432427.2:c.1774G>A (RAF1) | ENSP00000398591.2:n.1774G>A | |
| ENST00000442415.6:c.*190G>A (RAF1) | ENSP00000401888.2:n.*190G>A | |
| NM_002880.3:c.*190G>A , LRG_413t1:c.*190G>A (RAF1) | NP_002871.1:n.*190G>A | |
| XM_005265355.1:c.*190G>A (RAF1) | XP_005265412.1:n.*190G>A | |
| XM_005265357.1:c.*190G>A (RAF1) | XP_005265414.1:n.*190G>A | |
| XM_005265358.3:c.*190G>A (RAF1) | XP_005265415.1:n.*190G>A | |
| XM_005265359.3:c.*190G>A (RAF1) | XP_005265416.1:n.*190G>A | |
| XM_011533974.1:c.*190G>A (RAF1) | XP_011532276.1:n.*190G>A | |
| XM_011533975.1:c.*190G>A (RAF1) | XP_011532277.1:n.*190G>A | |
| NM_001354689.1:c.*190G>A (RAF1) | NP_001341618.1:n.*190G>A | |
| NM_001354690.1:c.*190G>A (RAF1) | NP_001341619.1:n.*190G>A | |
| NM_001354691.1:c.*190G>A (RAF1) | NP_001341620.1:n.*190G>A | |
| NM_001354692.1:c.*190G>A (RAF1) | NP_001341621.1:n.*190G>A | |
| NM_001354693.1:c.*190G>A (RAF1) | NP_001341622.1:n.*190G>A | |
| NM_001354694.1:c.*190G>A (RAF1) | NP_001341623.1:n.*190G>A | |
| NM_001354695.1:c.*190G>A (RAF1) | NP_001341624.1:n.*190G>A | |
| NR_148940.1:n.2665G>A (RAF1) | ||
| NR_148941.1:n.2611G>A (RAF1) | ||
| NR_148942.1:n.2550G>A (RAF1) | ||
| XM_011533974.3:c.*190G>A (RAF1) | XP_011532276.1:n.*190G>A | |
| XM_017006966.1:c.*190G>A (RAF1) | XP_016862455.1:n.*190G>A | |
| NM_001354689.3:c.*190G>A (RAF1) | NP_001341618.1:n.*190G>A | |
| NM_001354690.2:c.*190G>A (RAF1) | NP_001341619.1:n.*190G>A | |
| NM_001354691.2:c.*190G>A (RAF1) | NP_001341620.1:n.*190G>A | |
| NM_001354692.2:c.*190G>A (RAF1) | NP_001341621.1:n.*190G>A | |
| NM_001354693.2:c.*190G>A (RAF1) | NP_001341622.1:n.*190G>A | |
| NM_001354694.2:c.*190G>A (RAF1) | NP_001341623.1:n.*190G>A | |
| NM_001354695.2:c.*190G>A (RAF1) | NP_001341624.1:n.*190G>A | |
| NR_148940.2:n.2581G>A (RAF1) | ||
| NR_148941.2:n.2527G>A (RAF1) | ||
| NR_148942.2:n.2466G>A (RAF1) | ||
| NM_001354690.3:c.*190G>A (RAF1) | NP_001341619.1:n.*190G>A | |
| NM_001354691.3:c.*190G>A (RAF1) | NP_001341620.1:n.*190G>A | |
| NM_001354692.3:c.*190G>A (RAF1) | NP_001341621.1:n.*190G>A | |
| NM_001354693.3:c.*190G>A (RAF1) | NP_001341622.1:n.*190G>A | |
| NM_001354694.3:c.*190G>A (RAF1) | NP_001341623.1:n.*190G>A | |
| NM_001354695.3:c.*190G>A (RAF1) | NP_001341624.1:n.*190G>A | |
| NM_002880.4:c.*190G>A (RAF1) MANE Select | NP_002871.1:n.*190G>A | |
| NR_148940.3:n.2581G>A (RAF1) | ||
| NR_148941.3:n.2527G>A (RAF1) | ||
| NR_148942.3:n.2466G>A (RAF1) |