Linked Data
ClinVar Variation Id:
13960
ClinVar RCV Id:
RCV000014989
RCV000014990
RCV000020508
RCV000159089
RCV000254689
RCV000440827
RCV000824753
RCV001256891
dbSNP Id:
rs80338797
PubMed:
PMID:17603482
PMID:17603483
PMID:17603489
PMID:19933846
PMID:19953625
PMID:20052757
PMID:20301557
PMID:22826437
PMID:23093928
ERepo:
CA257066/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584624G>C , CM000665.2:g.12584624G>C | GRCh38 |
| NC_000003.11:g.12626123G>C , CM000665.1:g.12626123G>C | GRCh37 |
| NC_000003.10:g.12601123G>C | NCBI36 |
| NG_007467.1:g.84556C>G , LRG_413:g.84556C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1502C>G (RAF1) | ENSP00000401088.1:n.*1502C>G | |
| ENST00000432427.3:c.1154C>G (RAF1) | ||
| ENST00000460610.2:n.6149C>G (RAF1) | ||
| ENST00000471449.2:n.647C>G (RAF1) | ||
| ENST00000475353.2:n.4117C>G (RAF1) | ||
| ENST00000684903.1:c.*1514C>G (RAF1) | ENSP00000508612.1:n.*1514C>G | |
| ENST00000685348.1:c.*1548C>G (RAF1) | ENSP00000510285.1:n.*1548C>G | |
| ENST00000685437.1:c.1738C>G (RAF1) | ENSP00000508794.1:p.Leu580Val | |
| ENST00000685653.1:c.1837C>G (RAF1) | ENSP00000509968.1:p.Leu613Val | |
| ENST00000685697.1:n.2572C>G (RAF1) | ||
| ENST00000685738.1:c.*801C>G (RAF1) | ENSP00000510156.1:n.*801C>G | |
| ENST00000686409.1:n.5246C>G (RAF1) | ||
| ENST00000686455.1:n.4558C>G (RAF1) | ||
| ENST00000686762.1:c.*396C>G (RAF1) | ENSP00000509767.1:n.*396C>G | |
| ENST00000687257.1:n.4291C>G (RAF1) | ||
| ENST00000687326.1:c.*3129C>G (RAF1) | ENSP00000509665.1:n.*3129C>G | |
| ENST00000687505.1:n.1955C>G (RAF1) | ||
| ENST00000687923.1:c.1726C>G (RAF1) | ENSP00000510255.1:p.Leu576Val | |
| ENST00000688269.1:n.2433C>G (RAF1) | ||
| ENST00000688444.1:n.3954C>G (RAF1) | ||
| ENST00000688543.1:c.1738C>G (RAF1) | ENSP00000509612.1:p.Leu580Val | |
| ENST00000688625.1:c.*3206C>G (RAF1) | ENSP00000509522.1:n.*3206C>G | |
| ENST00000688803.1:n.3265C>G (RAF1) | ||
| ENST00000689097.1:c.*1514C>G (RAF1) | ENSP00000509756.1:n.*1514C>G | |
| ENST00000689389.1:c.1660C>G (RAF1) | ENSP00000510213.1:p.Leu554Val | |
| ENST00000689418.1:c.*3732C>G (RAF1) | ENSP00000509467.1:n.*3732C>G | |
| ENST00000689540.1:n.4205C>G (RAF1) | ||
| ENST00000689876.1:c.*386C>G (RAF1) | ENSP00000508535.1:n.*386C>G | |
| ENST00000689914.1:c.*771C>G (RAF1) | ENSP00000509847.1:n.*771C>G | |
| ENST00000690397.1:c.1726C>G (RAF1) | ENSP00000508730.1:p.Leu576Val | |
| ENST00000690460.1:c.1825C>G (RAF1) | ENSP00000509106.1:p.Leu609Val | |
| ENST00000690585.1:c.563C>G (RAF1) | ||
| ENST00000690625.1:n.2873C>G (RAF1) | ||
| ENST00000691396.1:c.*1709C>G (RAF1) | ENSP00000510712.1:n.*1709C>G | |
| ENST00000691643.1:n.2890C>G (RAF1) | ||
| ENST00000691724.1:c.*794C>G (RAF1) | ENSP00000509255.1:n.*794C>G | |
| ENST00000691779.1:c.*1415C>G (RAF1) | ENSP00000508592.1:n.*1415C>G | |
| ENST00000691888.1:c.711C>G (RAF1) | ||
| ENST00000691899.1:c.1837C>G (RAF1) | ENSP00000508763.1:p.Leu613Val | |
| ENST00000692069.1:n.4761C>G (RAF1) | ||
| ENST00000692093.1:c.1738C>G (RAF1) | ENSP00000509669.1:p.Leu580Val | |
| ENST00000692311.1:n.2661C>G (RAF1) | ||
| ENST00000692558.1:n.4420C>G (RAF1) | ||
| ENST00000692773.1:c.*1574C>G (RAF1) | ENSP00000509055.1:n.*1574C>G | |
| ENST00000692830.1:c.*1582C>G (RAF1) | ENSP00000509461.1:n.*1582C>G | |
| ENST00000693312.1:c.1612C>G (RAF1) | ENSP00000508686.1:p.Leu538Val | |
| ENST00000693664.1:c.*288C>G (RAF1) | ENSP00000509614.1:n.*288C>G | |
| ENST00000693705.1:c.*1216C>G (RAF1) | ENSP00000510697.1:n.*1216C>G | |
| ENST00000251849.9:c.1837C>G (RAF1) MANE Select | ENSP00000251849.4:p.Leu613Val | |
| ENST00000442415.7:c.1897C>G (RAF1) | ENSP00000401888.2:p.Leu633Val | |
| ENST00000676541.1:c.*2371G>C (MKRN2) | ENSP00000503730.1:n.*2371G>C | |
| ENST00000677142.1:c.*2371G>C (MKRN2) | ENSP00000504455.1:n.*2371G>C | |
| ENST00000677816.1:c.*926G>C (MKRN2) | ENSP00000502893.1:n.*926G>C | |
| ENST00000677941.1:n.2434G>C (MKRN2) | ||
| ENST00000251849.8:c.1837C>G (RAF1) | ENSP00000251849.4:p.Leu613Val | |
| ENST00000423275.5:c.*1514C>G (RAF1) | ENSP00000401088.1:n.*1514C>G | |
| ENST00000432427.2:c.1474C>G (RAF1) | ENSP00000398591.2:p.Leu492Val | |
| ENST00000442415.6:c.1897C>G (RAF1) | ENSP00000401888.2:p.Leu633Val | |
| ENST00000471449.1:n.526C>G (RAF1) | ||
| NM_002880.3:c.1837C>G , LRG_413t1:c.1837C>G (RAF1) | NP_002871.1:p.Leu613Val | |
| XM_005265355.1:c.1837C>G (RAF1) | XP_005265412.1:p.Leu613Val | |
| XM_005265357.1:c.1738C>G (RAF1) | XP_005265414.1:p.Leu580Val | |
| XM_005265358.3:c.1594C>G (RAF1) | XP_005265415.1:p.Leu532Val | |
| XM_005265359.3:c.1495C>G (RAF1) | XP_005265416.1:p.Leu499Val | |
| XM_011533974.1:c.1837C>G (RAF1) | XP_011532276.1:p.Leu613Val | |
| XM_011533975.1:c.1594C>G (RAF1) | XP_011532277.1:p.Leu532Val | |
| NM_001354689.1:c.1897C>G (RAF1) | NP_001341618.1:p.Leu633Val | |
| NM_001354690.1:c.1837C>G (RAF1) | NP_001341619.1:p.Leu613Val | |
| NM_001354691.1:c.1594C>G (RAF1) | NP_001341620.1:p.Leu532Val | |
| NM_001354692.1:c.1594C>G (RAF1) | NP_001341621.1:p.Leu532Val | |
| NM_001354693.1:c.1738C>G (RAF1) | NP_001341622.1:p.Leu580Val | |
| NM_001354694.1:c.1654C>G (RAF1) | NP_001341623.1:p.Leu552Val | |
| NM_001354695.1:c.1495C>G (RAF1) | NP_001341624.1:p.Leu499Val | |
| NR_148940.1:n.2365C>G (RAF1) | ||
| NR_148941.1:n.2311C>G (RAF1) | ||
| NR_148942.1:n.2250C>G (RAF1) | ||
| XM_011533974.3:c.1837C>G (RAF1) | XP_011532276.1:p.Leu613Val | |
| XM_017006966.1:c.1738C>G (RAF1) | XP_016862455.1:p.Leu580Val | |
| NM_001354689.3:c.1897C>G (RAF1) | NP_001341618.1:p.Leu633Val | |
| NM_001354690.2:c.1837C>G (RAF1) | NP_001341619.1:p.Leu613Val | |
| NM_001354691.2:c.1594C>G (RAF1) | NP_001341620.1:p.Leu532Val | |
| NM_001354692.2:c.1594C>G (RAF1) | NP_001341621.1:p.Leu532Val | |
| NM_001354693.2:c.1738C>G (RAF1) | NP_001341622.1:p.Leu580Val | |
| NM_001354694.2:c.1654C>G (RAF1) | NP_001341623.1:p.Leu552Val | |
| NM_001354695.2:c.1495C>G (RAF1) | NP_001341624.1:p.Leu499Val | |
| NR_148940.2:n.2281C>G (RAF1) | ||
| NR_148941.2:n.2227C>G (RAF1) | ||
| NR_148942.2:n.2166C>G (RAF1) | ||
| NM_001354690.3:c.1837C>G (RAF1) | NP_001341619.1:p.Leu613Val | |
| NM_001354691.3:c.1594C>G (RAF1) | NP_001341620.1:p.Leu532Val | |
| NM_001354692.3:c.1594C>G (RAF1) | NP_001341621.1:p.Leu532Val | |
| NM_001354693.3:c.1738C>G (RAF1) | NP_001341622.1:p.Leu580Val | |
| NM_001354694.3:c.1654C>G (RAF1) | NP_001341623.1:p.Leu552Val | |
| NM_001354695.3:c.1495C>G (RAF1) | NP_001341624.1:p.Leu499Val | |
| NM_002880.4:c.1837C>G (RAF1) MANE Select | NP_002871.1:p.Leu613Val | |
| NR_148940.3:n.2281C>G (RAF1) | ||
| NR_148941.3:n.2227C>G (RAF1) | ||
| NR_148942.3:n.2166C>G (RAF1) |