Linked Data
ClinVar Variation Id:
40630
ClinVar RCV Id:
RCV001668148
dbSNP Id:
rs2229757
gnomAD v2:
3-12625930-G-A
gnomAD v3:
3-12584431-G-A
gnomAD v4:
3-12584431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584431G>A , CM000665.2:g.12584431G>A | GRCh38 |
| NC_000003.11:g.12625930G>A , CM000665.1:g.12625930G>A | GRCh37 |
| NC_000003.10:g.12600930G>A | NCBI36 |
| NG_007467.1:g.84749C>T , LRG_413:g.84749C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1695C>T (RAF1) | ENSP00000401088.1:n.*1695C>T | |
| ENST00000432427.3:c.1347C>T (RAF1) | ||
| ENST00000460610.2:n.6342C>T (RAF1) | ||
| ENST00000471449.2:n.840C>T (RAF1) | ||
| ENST00000475353.2:n.4310C>T (RAF1) | ||
| ENST00000684903.1:c.*1707C>T (RAF1) | ENSP00000508612.1:n.*1707C>T | |
| ENST00000685348.1:c.*1741C>T (RAF1) | ENSP00000510285.1:n.*1741C>T | |
| ENST00000685437.1:c.*83C>T (RAF1) | ENSP00000508794.1:n.*83C>T | |
| ENST00000685653.1:c.*83C>T (RAF1) | ENSP00000509968.1:n.*83C>T | |
| ENST00000685697.1:n.2765C>T (RAF1) | ||
| ENST00000685738.1:c.*994C>T (RAF1) | ENSP00000510156.1:n.*994C>T | |
| ENST00000686409.1:n.5439C>T (RAF1) | ||
| ENST00000686455.1:n.4751C>T (RAF1) | ||
| ENST00000686762.1:c.*589C>T (RAF1) | ENSP00000509767.1:n.*589C>T | |
| ENST00000687257.1:n.4484C>T (RAF1) | ||
| ENST00000687326.1:c.*3322C>T (RAF1) | ENSP00000509665.1:n.*3322C>T | |
| ENST00000687505.1:n.2148C>T (RAF1) | ||
| ENST00000687923.1:c.*83C>T (RAF1) | ENSP00000510255.1:n.*83C>T | |
| ENST00000688269.1:n.2626C>T (RAF1) | ||
| ENST00000688444.1:n.4147C>T (RAF1) | ||
| ENST00000688543.1:c.*83C>T (RAF1) | ENSP00000509612.1:n.*83C>T | |
| ENST00000688625.1:c.*3399C>T (RAF1) | ENSP00000509522.1:n.*3399C>T | |
| ENST00000688803.1:n.3458C>T (RAF1) | ||
| ENST00000689097.1:c.*1707C>T (RAF1) | ENSP00000509756.1:n.*1707C>T | |
| ENST00000689389.1:c.*83C>T (RAF1) | ENSP00000510213.1:n.*83C>T | |
| ENST00000689418.1:c.*3925C>T (RAF1) | ENSP00000509467.1:n.*3925C>T | |
| ENST00000689540.1:n.4398C>T (RAF1) | ||
| ENST00000689876.1:c.*579C>T (RAF1) | ENSP00000508535.1:n.*579C>T | |
| ENST00000689914.1:c.*964C>T (RAF1) | ENSP00000509847.1:n.*964C>T | |
| ENST00000690397.1:c.*83C>T (RAF1) | ENSP00000508730.1:n.*83C>T | |
| ENST00000690460.1:c.*83C>T (RAF1) | ENSP00000509106.1:n.*83C>T | |
| ENST00000690585.1:c.756C>T (RAF1) | ||
| ENST00000690625.1:n.3066C>T (RAF1) | ||
| ENST00000691396.1:c.*1902C>T (RAF1) | ENSP00000510712.1:n.*1902C>T | |
| ENST00000691643.1:n.3083C>T (RAF1) | ||
| ENST00000691724.1:c.*987C>T (RAF1) | ENSP00000509255.1:n.*987C>T | |
| ENST00000691779.1:c.*1608C>T (RAF1) | ENSP00000508592.1:n.*1608C>T | |
| ENST00000691888.1:c.904C>T (RAF1) | ||
| ENST00000691899.1:c.*83C>T (RAF1) | ENSP00000508763.1:n.*83C>T | |
| ENST00000692069.1:n.4954C>T (RAF1) | ||
| ENST00000692093.1:c.*83C>T (RAF1) | ENSP00000509669.1:n.*83C>T | |
| ENST00000692311.1:n.2854C>T (RAF1) | ||
| ENST00000692558.1:n.4613C>T (RAF1) | ||
| ENST00000692773.1:c.*1767C>T (RAF1) | ENSP00000509055.1:n.*1767C>T | |
| ENST00000692830.1:c.*1775C>T (RAF1) | ENSP00000509461.1:n.*1775C>T | |
| ENST00000693312.1:c.*83C>T (RAF1) | ENSP00000508686.1:n.*83C>T | |
| ENST00000693664.1:c.*481C>T (RAF1) | ENSP00000509614.1:n.*481C>T | |
| ENST00000693705.1:c.*1409C>T (RAF1) | ENSP00000510697.1:n.*1409C>T | |
| ENST00000251849.9:c.*83C>T (RAF1) MANE Select | ENSP00000251849.4:n.*83C>T | |
| ENST00000442415.7:c.*83C>T (RAF1) | ENSP00000401888.2:n.*83C>T | |
| ENST00000676541.1:c.*2178G>A (MKRN2) | ENSP00000503730.1:n.*2178G>A | |
| ENST00000677142.1:c.*2178G>A (MKRN2) | ENSP00000504455.1:n.*2178G>A | |
| ENST00000677816.1:c.*733G>A (MKRN2) | ENSP00000502893.1:n.*733G>A | |
| ENST00000677941.1:n.2241G>A (MKRN2) | ||
| ENST00000251849.8:c.*83C>T (RAF1) | ENSP00000251849.4:n.*83C>T | |
| ENST00000423275.5:c.*1707C>T (RAF1) | ENSP00000401088.1:n.*1707C>T | |
| ENST00000432427.2:c.1667C>T (RAF1) | ENSP00000398591.2:n.1667C>T | |
| ENST00000442415.6:c.*83C>T (RAF1) | ENSP00000401888.2:n.*83C>T | |
| ENST00000471449.1:n.719C>T (RAF1) | ||
| NM_002880.3:c.*83C>T , LRG_413t1:c.*83C>T (RAF1) | NP_002871.1:n.*83C>T | |
| XM_005265355.1:c.*83C>T (RAF1) | XP_005265412.1:n.*83C>T | |
| XM_005265357.1:c.*83C>T (RAF1) | XP_005265414.1:n.*83C>T | |
| XM_005265358.3:c.*83C>T (RAF1) | XP_005265415.1:n.*83C>T | |
| XM_005265359.3:c.*83C>T (RAF1) | XP_005265416.1:n.*83C>T | |
| XM_011533974.1:c.*83C>T (RAF1) | XP_011532276.1:n.*83C>T | |
| XM_011533975.1:c.*83C>T (RAF1) | XP_011532277.1:n.*83C>T | |
| NM_001354689.1:c.*83C>T (RAF1) | NP_001341618.1:n.*83C>T | |
| NM_001354690.1:c.*83C>T (RAF1) | NP_001341619.1:n.*83C>T | |
| NM_001354691.1:c.*83C>T (RAF1) | NP_001341620.1:n.*83C>T | |
| NM_001354692.1:c.*83C>T (RAF1) | NP_001341621.1:n.*83C>T | |
| NM_001354693.1:c.*83C>T (RAF1) | NP_001341622.1:n.*83C>T | |
| NM_001354694.1:c.*83C>T (RAF1) | NP_001341623.1:n.*83C>T | |
| NM_001354695.1:c.*83C>T (RAF1) | NP_001341624.1:n.*83C>T | |
| NR_148940.1:n.2558C>T (RAF1) | ||
| NR_148941.1:n.2504C>T (RAF1) | ||
| NR_148942.1:n.2443C>T (RAF1) | ||
| XM_011533974.3:c.*83C>T (RAF1) | XP_011532276.1:n.*83C>T | |
| XM_017006966.1:c.*83C>T (RAF1) | XP_016862455.1:n.*83C>T | |
| NM_001354689.3:c.*83C>T (RAF1) | NP_001341618.1:n.*83C>T | |
| NM_001354690.2:c.*83C>T (RAF1) | NP_001341619.1:n.*83C>T | |
| NM_001354691.2:c.*83C>T (RAF1) | NP_001341620.1:n.*83C>T | |
| NM_001354692.2:c.*83C>T (RAF1) | NP_001341621.1:n.*83C>T | |
| NM_001354693.2:c.*83C>T (RAF1) | NP_001341622.1:n.*83C>T | |
| NM_001354694.2:c.*83C>T (RAF1) | NP_001341623.1:n.*83C>T | |
| NM_001354695.2:c.*83C>T (RAF1) | NP_001341624.1:n.*83C>T | |
| NR_148940.2:n.2474C>T (RAF1) | ||
| NR_148941.2:n.2420C>T (RAF1) | ||
| NR_148942.2:n.2359C>T (RAF1) | ||
| NM_001354690.3:c.*83C>T (RAF1) | NP_001341619.1:n.*83C>T | |
| NM_001354691.3:c.*83C>T (RAF1) | NP_001341620.1:n.*83C>T | |
| NM_001354692.3:c.*83C>T (RAF1) | NP_001341621.1:n.*83C>T | |
| NM_001354693.3:c.*83C>T (RAF1) | NP_001341622.1:n.*83C>T | |
| NM_001354694.3:c.*83C>T (RAF1) | NP_001341623.1:n.*83C>T | |
| NM_001354695.3:c.*83C>T (RAF1) | NP_001341624.1:n.*83C>T | |
| NM_002880.4:c.*83C>T (RAF1) MANE Select | NP_002871.1:n.*83C>T | |
| NR_148940.3:n.2474C>T (RAF1) | ||
| NR_148941.3:n.2420C>T (RAF1) | ||
| NR_148942.3:n.2359C>T (RAF1) |