Linked Data
ClinVar Variation Id:
543963
ClinVar RCV Id:
RCV000654916
dbSNP Id:
rs1315751104
gnomAD v2:
3-12627199-G-A
gnomAD v4:
3-12585700-G-A
COSMIC:
COSM1037784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585700G>A , CM000665.2:g.12585700G>A | GRCh38 |
| NC_000003.11:g.12627199G>A , CM000665.1:g.12627199G>A | GRCh37 |
| NC_000003.10:g.12602199G>A | NCBI36 |
| NG_007467.1:g.83480C>T , LRG_413:g.83480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1182C>T (RAF1) | ENSP00000401088.1:n.*1182C>T | |
| ENST00000432427.3:c.834C>T (RAF1) | ||
| ENST00000460610.2:n.5262C>T (RAF1) | ||
| ENST00000471449.2:n.327C>T (RAF1) | ||
| ENST00000475353.2:n.3230C>T (RAF1) | ||
| ENST00000684903.1:c.*1194C>T (RAF1) | ENSP00000508612.1:n.*1194C>T | |
| ENST00000685348.1:c.*1095-294C>T (RAF1) | ENSP00000510285.1:n.*1095-294C>T | |
| ENST00000685437.1:c.1418C>T (RAF1) | ENSP00000508794.1:p.Thr473Ile | |
| ENST00000685653.1:c.1517C>T (RAF1) | ENSP00000509968.1:p.Thr506Ile | |
| ENST00000685697.1:n.2252C>T (RAF1) | ||
| ENST00000685738.1:c.*481C>T (RAF1) | ENSP00000510156.1:n.*481C>T | |
| ENST00000686409.1:n.4359C>T (RAF1) | ||
| ENST00000686455.1:n.3671C>T (RAF1) | ||
| ENST00000686762.1:c.*76C>T (RAF1) | ENSP00000509767.1:n.*76C>T | |
| ENST00000687257.1:n.3544C>T (RAF1) | ||
| ENST00000687326.1:c.*2242C>T (RAF1) | ENSP00000509665.1:n.*2242C>T | |
| ENST00000687505.1:n.1635C>T (RAF1) | ||
| ENST00000687923.1:c.1406C>T (RAF1) | ENSP00000510255.1:p.Thr469Ile | |
| ENST00000688269.1:n.2113C>T (RAF1) | ||
| ENST00000688444.1:n.3634C>T (RAF1) | ||
| ENST00000688543.1:c.1418C>T (RAF1) | ENSP00000509612.1:p.Thr473Ile | |
| ENST00000688625.1:c.*2886C>T (RAF1) | ENSP00000509522.1:n.*2886C>T | |
| ENST00000688803.1:n.2965-447C>T (RAF1) | ||
| ENST00000688914.1:n.503C>T (RAF1) | ||
| ENST00000689097.1:c.*1194C>T (RAF1) | ENSP00000509756.1:n.*1194C>T | |
| ENST00000689389.1:c.1340C>T (RAF1) | ENSP00000510213.1:p.Thr447Ile | |
| ENST00000689418.1:c.*2985C>T (RAF1) | ENSP00000509467.1:n.*2985C>T | |
| ENST00000689540.1:n.3458C>T (RAF1) | ||
| ENST00000689876.1:c.1418-294C>T (RAF1) | ENSP00000508535.1:n.1418-294C>T | |
| ENST00000689914.1:c.*451C>T (RAF1) | ENSP00000509847.1:n.*451C>T | |
| ENST00000690397.1:c.1406C>T (RAF1) | ENSP00000508730.1:p.Thr469Ile | |
| ENST00000690460.1:c.1505C>T (RAF1) | ENSP00000509106.1:p.Thr502Ile | |
| ENST00000690585.1:c.263-447C>T (RAF1) | ||
| ENST00000690625.1:n.2553C>T (RAF1) | ||
| ENST00000691396.1:c.*1389C>T (RAF1) | ENSP00000510712.1:n.*1389C>T | |
| ENST00000691643.1:n.2143C>T (RAF1) | ||
| ENST00000691724.1:c.*474C>T (RAF1) | ENSP00000509255.1:n.*474C>T | |
| ENST00000691779.1:c.*1095C>T (RAF1) | ENSP00000508592.1:n.*1095C>T | |
| ENST00000691888.1:c.391C>T (RAF1) | ||
| ENST00000691899.1:c.1517C>T (RAF1) | ENSP00000508763.1:p.Thr506Ile | |
| ENST00000692069.1:n.3874C>T (RAF1) | ||
| ENST00000692093.1:c.1418C>T (RAF1) | ENSP00000509669.1:p.Thr473Ile | |
| ENST00000692311.1:n.2341C>T (RAF1) | ||
| ENST00000692558.1:n.3673C>T (RAF1) | ||
| ENST00000692773.1:c.*1254C>T (RAF1) | ENSP00000509055.1:n.*1254C>T | |
| ENST00000692830.1:c.*1262C>T (RAF1) | ENSP00000509461.1:n.*1262C>T | |
| ENST00000693312.1:c.1292C>T (RAF1) | ENSP00000508686.1:p.Thr431Ile | |
| ENST00000693664.1:c.1488-447C>T (RAF1) | ENSP00000509614.1:n.1488-447C>T | |
| ENST00000693705.1:c.*1048-719C>T (RAF1) | ENSP00000510697.1:n.*1048-719C>T | |
| ENST00000251849.9:c.1517C>T (RAF1) MANE Select | ENSP00000251849.4:p.Thr506Ile | |
| ENST00000442415.7:c.1577C>T (RAF1) | ENSP00000401888.2:p.Thr526Ile | |
| ENST00000676541.1:c.*3447G>A (MKRN2) | ENSP00000503730.1:n.*3447G>A | |
| ENST00000677142.1:c.*3447G>A (MKRN2) | ENSP00000504455.1:n.*3447G>A | |
| ENST00000677816.1:c.*2002G>A (MKRN2) | ENSP00000502893.1:n.*2002G>A | |
| ENST00000677941.1:n.3510G>A (MKRN2) | ||
| ENST00000251849.8:c.1517C>T (RAF1) | ENSP00000251849.4:p.Thr506Ile | |
| ENST00000423275.5:c.*1194C>T (RAF1) | ENSP00000401088.1:n.*1194C>T | |
| ENST00000432427.2:c.1154C>T (RAF1) | ENSP00000398591.2:p.Thr385Ile | |
| ENST00000442415.6:c.1577C>T (RAF1) | ENSP00000401888.2:p.Thr526Ile | |
| ENST00000471449.1:n.206C>T (RAF1) | ||
| NM_002880.3:c.1517C>T , LRG_413t1:c.1517C>T (RAF1) | NP_002871.1:p.Thr506Ile | |
| XM_005265355.1:c.1517C>T (RAF1) | XP_005265412.1:p.Thr506Ile | |
| XM_005265357.1:c.1418C>T (RAF1) | XP_005265414.1:p.Thr473Ile | |
| XM_005265358.3:c.1274C>T (RAF1) | XP_005265415.1:p.Thr425Ile | |
| XM_005265359.3:c.1175C>T (RAF1) | XP_005265416.1:p.Thr392Ile | |
| XM_005265360.1:c.1418-294C>T (RAF1) | XP_005265417.1:n.1418-294C>T | |
| XM_011533974.1:c.1517C>T (RAF1) | XP_011532276.1:p.Thr506Ile | |
| XM_011533975.1:c.1274C>T (RAF1) | XP_011532277.1:p.Thr425Ile | |
| NM_001354689.1:c.1577C>T (RAF1) | NP_001341618.1:p.Thr526Ile | |
| NM_001354690.1:c.1517C>T (RAF1) | NP_001341619.1:p.Thr506Ile | |
| NM_001354691.1:c.1274C>T (RAF1) | NP_001341620.1:p.Thr425Ile | |
| NM_001354692.1:c.1274C>T (RAF1) | NP_001341621.1:p.Thr425Ile | |
| NM_001354693.1:c.1418C>T (RAF1) | NP_001341622.1:p.Thr473Ile | |
| NM_001354694.1:c.1334C>T (RAF1) | NP_001341623.1:p.Thr445Ile | |
| NM_001354695.1:c.1175C>T (RAF1) | NP_001341624.1:p.Thr392Ile | |
| NR_148940.1:n.2045C>T (RAF1) | ||
| NR_148941.1:n.1991C>T (RAF1) | ||
| NR_148942.1:n.1930C>T (RAF1) | ||
| XM_011533974.3:c.1517C>T (RAF1) | XP_011532276.1:p.Thr506Ile | |
| XM_017006966.1:c.1418C>T (RAF1) | XP_016862455.1:p.Thr473Ile | |
| NM_001354689.3:c.1577C>T (RAF1) | NP_001341618.1:p.Thr526Ile | |
| NM_001354690.2:c.1517C>T (RAF1) | NP_001341619.1:p.Thr506Ile | |
| NM_001354691.2:c.1274C>T (RAF1) | NP_001341620.1:p.Thr425Ile | |
| NM_001354692.2:c.1274C>T (RAF1) | NP_001341621.1:p.Thr425Ile | |
| NM_001354693.2:c.1418C>T (RAF1) | NP_001341622.1:p.Thr473Ile | |
| NM_001354694.2:c.1334C>T (RAF1) | NP_001341623.1:p.Thr445Ile | |
| NM_001354695.2:c.1175C>T (RAF1) | NP_001341624.1:p.Thr392Ile | |
| NR_148940.2:n.1961C>T (RAF1) | ||
| NR_148941.2:n.1907C>T (RAF1) | ||
| NR_148942.2:n.1846C>T (RAF1) | ||
| NM_001354690.3:c.1517C>T (RAF1) | NP_001341619.1:p.Thr506Ile | |
| NM_001354691.3:c.1274C>T (RAF1) | NP_001341620.1:p.Thr425Ile | |
| NM_001354692.3:c.1274C>T (RAF1) | NP_001341621.1:p.Thr425Ile | |
| NM_001354693.3:c.1418C>T (RAF1) | NP_001341622.1:p.Thr473Ile | |
| NM_001354694.3:c.1334C>T (RAF1) | NP_001341623.1:p.Thr445Ile | |
| NM_001354695.3:c.1175C>T (RAF1) | NP_001341624.1:p.Thr392Ile | |
| NM_002880.4:c.1517C>T (RAF1) MANE Select | NP_002871.1:p.Thr506Ile | |
| NR_148940.3:n.1961C>T (RAF1) | ||
| NR_148941.3:n.1907C>T (RAF1) | ||
| NR_148942.3:n.1846C>T (RAF1) |