Linked Data
ClinVar Variation Id:
864448
dbSNP Id:
rs1243841152
gnomAD v2:
3-12626075-C-A
gnomAD v3:
3-12584576-C-A
gnomAD v4:
3-12584576-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584576C>A , CM000665.2:g.12584576C>A | GRCh38 |
| NC_000003.11:g.12626075C>A , CM000665.1:g.12626075C>A | GRCh37 |
| NC_000003.10:g.12601075C>A | NCBI36 |
| NG_007467.1:g.84604G>T , LRG_413:g.84604G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1550G>T (RAF1) | ENSP00000401088.1:n.*1550G>T | |
| ENST00000432427.3:c.1202G>T (RAF1) | ||
| ENST00000460610.2:n.6197G>T (RAF1) | ||
| ENST00000471449.2:n.695G>T (RAF1) | ||
| ENST00000475353.2:n.4165G>T (RAF1) | ||
| ENST00000684903.1:c.*1562G>T (RAF1) | ENSP00000508612.1:n.*1562G>T | |
| ENST00000685348.1:c.*1596G>T (RAF1) | ENSP00000510285.1:n.*1596G>T | |
| ENST00000685437.1:c.1786G>T (RAF1) | ENSP00000508794.1:p.Ala596Ser | |
| ENST00000685653.1:c.1885G>T (RAF1) | ENSP00000509968.1:p.Ala629Ser | |
| ENST00000685697.1:n.2620G>T (RAF1) | ||
| ENST00000685738.1:c.*849G>T (RAF1) | ENSP00000510156.1:n.*849G>T | |
| ENST00000686409.1:n.5294G>T (RAF1) | ||
| ENST00000686455.1:n.4606G>T (RAF1) | ||
| ENST00000686762.1:c.*444G>T (RAF1) | ENSP00000509767.1:n.*444G>T | |
| ENST00000687257.1:n.4339G>T (RAF1) | ||
| ENST00000687326.1:c.*3177G>T (RAF1) | ENSP00000509665.1:n.*3177G>T | |
| ENST00000687505.1:n.2003G>T (RAF1) | ||
| ENST00000687923.1:c.1774G>T (RAF1) | ENSP00000510255.1:p.Ala592Ser | |
| ENST00000688269.1:n.2481G>T (RAF1) | ||
| ENST00000688444.1:n.4002G>T (RAF1) | ||
| ENST00000688543.1:c.1786G>T (RAF1) | ENSP00000509612.1:p.Ala596Ser | |
| ENST00000688625.1:c.*3254G>T (RAF1) | ENSP00000509522.1:n.*3254G>T | |
| ENST00000688803.1:n.3313G>T (RAF1) | ||
| ENST00000689097.1:c.*1562G>T (RAF1) | ENSP00000509756.1:n.*1562G>T | |
| ENST00000689389.1:c.1708G>T (RAF1) | ENSP00000510213.1:p.Ala570Ser | |
| ENST00000689418.1:c.*3780G>T (RAF1) | ENSP00000509467.1:n.*3780G>T | |
| ENST00000689540.1:n.4253G>T (RAF1) | ||
| ENST00000689876.1:c.*434G>T (RAF1) | ENSP00000508535.1:n.*434G>T | |
| ENST00000689914.1:c.*819G>T (RAF1) | ENSP00000509847.1:n.*819G>T | |
| ENST00000690397.1:c.1774G>T (RAF1) | ENSP00000508730.1:p.Ala592Ser | |
| ENST00000690460.1:c.1873G>T (RAF1) | ENSP00000509106.1:p.Ala625Ser | |
| ENST00000690585.1:c.611G>T (RAF1) | ||
| ENST00000690625.1:n.2921G>T (RAF1) | ||
| ENST00000691396.1:c.*1757G>T (RAF1) | ENSP00000510712.1:n.*1757G>T | |
| ENST00000691643.1:n.2938G>T (RAF1) | ||
| ENST00000691724.1:c.*842G>T (RAF1) | ENSP00000509255.1:n.*842G>T | |
| ENST00000691779.1:c.*1463G>T (RAF1) | ENSP00000508592.1:n.*1463G>T | |
| ENST00000691888.1:c.759G>T (RAF1) | ||
| ENST00000691899.1:c.1885G>T (RAF1) | ENSP00000508763.1:p.Ala629Ser | |
| ENST00000692069.1:n.4809G>T (RAF1) | ||
| ENST00000692093.1:c.1786G>T (RAF1) | ENSP00000509669.1:p.Ala596Ser | |
| ENST00000692311.1:n.2709G>T (RAF1) | ||
| ENST00000692558.1:n.4468G>T (RAF1) | ||
| ENST00000692773.1:c.*1622G>T (RAF1) | ENSP00000509055.1:n.*1622G>T | |
| ENST00000692830.1:c.*1630G>T (RAF1) | ENSP00000509461.1:n.*1630G>T | |
| ENST00000693312.1:c.1660G>T (RAF1) | ENSP00000508686.1:p.Ala554Ser | |
| ENST00000693664.1:c.*336G>T (RAF1) | ENSP00000509614.1:n.*336G>T | |
| ENST00000693705.1:c.*1264G>T (RAF1) | ENSP00000510697.1:n.*1264G>T | |
| ENST00000251849.9:c.1885G>T (RAF1) MANE Select | ENSP00000251849.4:p.Ala629Ser | |
| ENST00000442415.7:c.1945G>T (RAF1) | ENSP00000401888.2:p.Ala649Ser | |
| ENST00000676541.1:c.*2323C>A (MKRN2) | ENSP00000503730.1:n.*2323C>A | |
| ENST00000677142.1:c.*2323C>A (MKRN2) | ENSP00000504455.1:n.*2323C>A | |
| ENST00000677816.1:c.*878C>A (MKRN2) | ENSP00000502893.1:n.*878C>A | |
| ENST00000677941.1:n.2386C>A (MKRN2) | ||
| ENST00000251849.8:c.1885G>T (RAF1) | ENSP00000251849.4:p.Ala629Ser | |
| ENST00000423275.5:c.*1562G>T (RAF1) | ENSP00000401088.1:n.*1562G>T | |
| ENST00000432427.2:c.1522G>T (RAF1) | ENSP00000398591.2:p.Ala508Ser | |
| ENST00000442415.6:c.1945G>T (RAF1) | ENSP00000401888.2:p.Ala649Ser | |
| ENST00000471449.1:n.574G>T (RAF1) | ||
| NM_002880.3:c.1885G>T , LRG_413t1:c.1885G>T (RAF1) | NP_002871.1:p.Ala629Ser | |
| XM_005265355.1:c.1885G>T (RAF1) | XP_005265412.1:p.Ala629Ser | |
| XM_005265357.1:c.1786G>T (RAF1) | XP_005265414.1:p.Ala596Ser | |
| XM_005265358.3:c.1642G>T (RAF1) | XP_005265415.1:p.Ala548Ser | |
| XM_005265359.3:c.1543G>T (RAF1) | XP_005265416.1:p.Ala515Ser | |
| XM_011533974.1:c.1885G>T (RAF1) | XP_011532276.1:p.Ala629Ser | |
| XM_011533975.1:c.1642G>T (RAF1) | XP_011532277.1:p.Ala548Ser | |
| NM_001354689.1:c.1945G>T (RAF1) | NP_001341618.1:p.Ala649Ser | |
| NM_001354690.1:c.1885G>T (RAF1) | NP_001341619.1:p.Ala629Ser | |
| NM_001354691.1:c.1642G>T (RAF1) | NP_001341620.1:p.Ala548Ser | |
| NM_001354692.1:c.1642G>T (RAF1) | NP_001341621.1:p.Ala548Ser | |
| NM_001354693.1:c.1786G>T (RAF1) | NP_001341622.1:p.Ala596Ser | |
| NM_001354694.1:c.1702G>T (RAF1) | NP_001341623.1:p.Ala568Ser | |
| NM_001354695.1:c.1543G>T (RAF1) | NP_001341624.1:p.Ala515Ser | |
| NR_148940.1:n.2413G>T (RAF1) | ||
| NR_148941.1:n.2359G>T (RAF1) | ||
| NR_148942.1:n.2298G>T (RAF1) | ||
| XM_011533974.3:c.1885G>T (RAF1) | XP_011532276.1:p.Ala629Ser | |
| XM_017006966.1:c.1786G>T (RAF1) | XP_016862455.1:p.Ala596Ser | |
| NM_001354689.3:c.1945G>T (RAF1) | NP_001341618.1:p.Ala649Ser | |
| NM_001354690.2:c.1885G>T (RAF1) | NP_001341619.1:p.Ala629Ser | |
| NM_001354691.2:c.1642G>T (RAF1) | NP_001341620.1:p.Ala548Ser | |
| NM_001354692.2:c.1642G>T (RAF1) | NP_001341621.1:p.Ala548Ser | |
| NM_001354693.2:c.1786G>T (RAF1) | NP_001341622.1:p.Ala596Ser | |
| NM_001354694.2:c.1702G>T (RAF1) | NP_001341623.1:p.Ala568Ser | |
| NM_001354695.2:c.1543G>T (RAF1) | NP_001341624.1:p.Ala515Ser | |
| NR_148940.2:n.2329G>T (RAF1) | ||
| NR_148941.2:n.2275G>T (RAF1) | ||
| NR_148942.2:n.2214G>T (RAF1) | ||
| NM_001354690.3:c.1885G>T (RAF1) | NP_001341619.1:p.Ala629Ser | |
| NM_001354691.3:c.1642G>T (RAF1) | NP_001341620.1:p.Ala548Ser | |
| NM_001354692.3:c.1642G>T (RAF1) | NP_001341621.1:p.Ala548Ser | |
| NM_001354693.3:c.1786G>T (RAF1) | NP_001341622.1:p.Ala596Ser | |
| NM_001354694.3:c.1702G>T (RAF1) | NP_001341623.1:p.Ala568Ser | |
| NM_001354695.3:c.1543G>T (RAF1) | NP_001341624.1:p.Ala515Ser | |
| NM_002880.4:c.1885G>T (RAF1) MANE Select | NP_002871.1:p.Ala629Ser | |
| NR_148940.3:n.2329G>T (RAF1) | ||
| NR_148941.3:n.2275G>T (RAF1) | ||
| NR_148942.3:n.2214G>T (RAF1) |