Linked Data
ClinVar Variation Id:
1133591
ClinVar RCV Id:
RCV001468221
dbSNP Id:
rs2125319153
gnomAD v4:
3-12584838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584838G>A , CM000665.2:g.12584838G>A | GRCh38 |
| NC_000003.11:g.12626337G>A , CM000665.1:g.12626337G>A | GRCh37 |
| NC_000003.10:g.12601337G>A | NCBI36 |
| NG_007467.1:g.84342C>T , LRG_413:g.84342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1468+9C>T (RAF1) | ENSP00000401088.1:n.*1468+9C>T | |
| ENST00000432427.3:c.1120+9C>T (RAF1) | ||
| ENST00000460610.2:n.6115+9C>T (RAF1) | ||
| ENST00000471449.2:n.613+9C>T (RAF1) | ||
| ENST00000475353.2:n.4083+9C>T (RAF1) | ||
| ENST00000684903.1:c.*1480+9C>T (RAF1) | ENSP00000508612.1:n.*1480+9C>T | |
| ENST00000685348.1:c.*1514+9C>T (RAF1) | ENSP00000510285.1:n.*1514+9C>T | |
| ENST00000685437.1:c.1704+9C>T (RAF1) | ENSP00000508794.1:n.1704+9C>T | |
| ENST00000685653.1:c.1803+9C>T (RAF1) | ENSP00000509968.1:n.1803+9C>T | |
| ENST00000685697.1:n.2538+9C>T (RAF1) | ||
| ENST00000685738.1:c.*767+9C>T (RAF1) | ENSP00000510156.1:n.*767+9C>T | |
| ENST00000686409.1:n.5212+9C>T (RAF1) | ||
| ENST00000686455.1:n.4524+9C>T (RAF1) | ||
| ENST00000686762.1:c.*362+9C>T (RAF1) | ENSP00000509767.1:n.*362+9C>T | |
| ENST00000687257.1:n.4257+9C>T (RAF1) | ||
| ENST00000687326.1:c.*3095+9C>T (RAF1) | ENSP00000509665.1:n.*3095+9C>T | |
| ENST00000687505.1:n.1921+9C>T (RAF1) | ||
| ENST00000687923.1:c.1692+9C>T (RAF1) | ENSP00000510255.1:n.1692+9C>T | |
| ENST00000688269.1:n.2399+9C>T (RAF1) | ||
| ENST00000688444.1:n.3920+9C>T (RAF1) | ||
| ENST00000688543.1:c.1704+9C>T (RAF1) | ENSP00000509612.1:n.1704+9C>T | |
| ENST00000688625.1:c.*3172+9C>T (RAF1) | ENSP00000509522.1:n.*3172+9C>T | |
| ENST00000688803.1:n.3231+9C>T (RAF1) | ||
| ENST00000689097.1:c.*1480+9C>T (RAF1) | ENSP00000509756.1:n.*1480+9C>T | |
| ENST00000689389.1:c.1626+9C>T (RAF1) | ENSP00000510213.1:n.1626+9C>T | |
| ENST00000689418.1:c.*3698+9C>T (RAF1) | ENSP00000509467.1:n.*3698+9C>T | |
| ENST00000689540.1:n.4171+9C>T (RAF1) | ||
| ENST00000689876.1:c.*352+9C>T (RAF1) | ENSP00000508535.1:n.*352+9C>T | |
| ENST00000689914.1:c.*737+9C>T (RAF1) | ENSP00000509847.1:n.*737+9C>T | |
| ENST00000690397.1:c.1692+9C>T (RAF1) | ENSP00000508730.1:n.1692+9C>T | |
| ENST00000690460.1:c.1791+9C>T (RAF1) | ENSP00000509106.1:n.1791+9C>T | |
| ENST00000690585.1:c.529+9C>T (RAF1) | ||
| ENST00000690625.1:n.2839+9C>T (RAF1) | ||
| ENST00000691396.1:c.*1675+9C>T (RAF1) | ENSP00000510712.1:n.*1675+9C>T | |
| ENST00000691643.1:n.2856+9C>T (RAF1) | ||
| ENST00000691724.1:c.*760+9C>T (RAF1) | ENSP00000509255.1:n.*760+9C>T | |
| ENST00000691779.1:c.*1381+9C>T (RAF1) | ENSP00000508592.1:n.*1381+9C>T | |
| ENST00000691888.1:c.677+9C>T (RAF1) | ||
| ENST00000691899.1:c.1803+9C>T (RAF1) | ENSP00000508763.1:n.1803+9C>T | |
| ENST00000692069.1:n.4727+9C>T (RAF1) | ||
| ENST00000692093.1:c.1704+9C>T (RAF1) | ENSP00000509669.1:n.1704+9C>T | |
| ENST00000692311.1:n.2627+9C>T (RAF1) | ||
| ENST00000692558.1:n.4386+9C>T (RAF1) | ||
| ENST00000692773.1:c.*1540+9C>T (RAF1) | ENSP00000509055.1:n.*1540+9C>T | |
| ENST00000692830.1:c.*1548+9C>T (RAF1) | ENSP00000509461.1:n.*1548+9C>T | |
| ENST00000693312.1:c.1578+9C>T (RAF1) | ENSP00000508686.1:n.1578+9C>T | |
| ENST00000693664.1:c.*254+9C>T (RAF1) | ENSP00000509614.1:n.*254+9C>T | |
| ENST00000693705.1:c.*1182+9C>T (RAF1) | ENSP00000510697.1:n.*1182+9C>T | |
| ENST00000251849.9:c.1803+9C>T (RAF1) MANE Select | ENSP00000251849.4:n.1803+9C>T | |
| ENST00000442415.7:c.1863+9C>T (RAF1) | ENSP00000401888.2:n.1863+9C>T | |
| ENST00000676541.1:c.*2585G>A (MKRN2) | ENSP00000503730.1:n.*2585G>A | |
| ENST00000677142.1:c.*2585G>A (MKRN2) | ENSP00000504455.1:n.*2585G>A | |
| ENST00000677816.1:c.*1140G>A (MKRN2) | ENSP00000502893.1:n.*1140G>A | |
| ENST00000677941.1:n.2648G>A (MKRN2) | ||
| ENST00000251849.8:c.1803+9C>T (RAF1) | ENSP00000251849.4:n.1803+9C>T | |
| ENST00000423275.5:c.*1480+9C>T (RAF1) | ENSP00000401088.1:n.*1480+9C>T | |
| ENST00000432427.2:c.1440+9C>T (RAF1) | ENSP00000398591.2:n.1440+9C>T | |
| ENST00000442415.6:c.1863+9C>T (RAF1) | ENSP00000401888.2:n.1863+9C>T | |
| ENST00000471449.1:n.492+9C>T (RAF1) | ||
| NM_002880.3:c.1803+9C>T , LRG_413t1:c.1803+9C>T (RAF1) | NP_002871.1:n.1803+9C>T | |
| XM_005265355.1:c.1803+9C>T (RAF1) | XP_005265412.1:n.1803+9C>T | |
| XM_005265357.1:c.1704+9C>T (RAF1) | XP_005265414.1:n.1704+9C>T | |
| XM_005265358.3:c.1560+9C>T (RAF1) | XP_005265415.1:n.1560+9C>T | |
| XM_005265359.3:c.1461+9C>T (RAF1) | XP_005265416.1:n.1461+9C>T | |
| XM_011533974.1:c.1803+9C>T (RAF1) | XP_011532276.1:n.1803+9C>T | |
| XM_011533975.1:c.1560+9C>T (RAF1) | XP_011532277.1:n.1560+9C>T | |
| NM_001354689.1:c.1863+9C>T (RAF1) | NP_001341618.1:n.1863+9C>T | |
| NM_001354690.1:c.1803+9C>T (RAF1) | NP_001341619.1:n.1803+9C>T | |
| NM_001354691.1:c.1560+9C>T (RAF1) | NP_001341620.1:n.1560+9C>T | |
| NM_001354692.1:c.1560+9C>T (RAF1) | NP_001341621.1:n.1560+9C>T | |
| NM_001354693.1:c.1704+9C>T (RAF1) | NP_001341622.1:n.1704+9C>T | |
| NM_001354694.1:c.1620+9C>T (RAF1) | NP_001341623.1:n.1620+9C>T | |
| NM_001354695.1:c.1461+9C>T (RAF1) | NP_001341624.1:n.1461+9C>T | |
| NR_148940.1:n.2331+9C>T (RAF1) | ||
| NR_148941.1:n.2277+9C>T (RAF1) | ||
| NR_148942.1:n.2216+9C>T (RAF1) | ||
| XM_011533974.3:c.1803+9C>T (RAF1) | XP_011532276.1:n.1803+9C>T | |
| XM_017006966.1:c.1704+9C>T (RAF1) | XP_016862455.1:n.1704+9C>T | |
| NM_001354689.3:c.1863+9C>T (RAF1) | NP_001341618.1:n.1863+9C>T | |
| NM_001354690.2:c.1803+9C>T (RAF1) | NP_001341619.1:n.1803+9C>T | |
| NM_001354691.2:c.1560+9C>T (RAF1) | NP_001341620.1:n.1560+9C>T | |
| NM_001354692.2:c.1560+9C>T (RAF1) | NP_001341621.1:n.1560+9C>T | |
| NM_001354693.2:c.1704+9C>T (RAF1) | NP_001341622.1:n.1704+9C>T | |
| NM_001354694.2:c.1620+9C>T (RAF1) | NP_001341623.1:n.1620+9C>T | |
| NM_001354695.2:c.1461+9C>T (RAF1) | NP_001341624.1:n.1461+9C>T | |
| NR_148940.2:n.2247+9C>T (RAF1) | ||
| NR_148941.2:n.2193+9C>T (RAF1) | ||
| NR_148942.2:n.2132+9C>T (RAF1) | ||
| NM_001354690.3:c.1803+9C>T (RAF1) | NP_001341619.1:n.1803+9C>T | |
| NM_001354691.3:c.1560+9C>T (RAF1) | NP_001341620.1:n.1560+9C>T | |
| NM_001354692.3:c.1560+9C>T (RAF1) | NP_001341621.1:n.1560+9C>T | |
| NM_001354693.3:c.1704+9C>T (RAF1) | NP_001341622.1:n.1704+9C>T | |
| NM_001354694.3:c.1620+9C>T (RAF1) | NP_001341623.1:n.1620+9C>T | |
| NM_001354695.3:c.1461+9C>T (RAF1) | NP_001341624.1:n.1461+9C>T | |
| NM_002880.4:c.1803+9C>T (RAF1) MANE Select | NP_002871.1:n.1803+9C>T | |
| NR_148940.3:n.2247+9C>T (RAF1) | ||
| NR_148941.3:n.2193+9C>T (RAF1) | ||
| NR_148942.3:n.2132+9C>T (RAF1) |