Linked Data
ClinVar Variation Id:
21341
ClinVar RCV Id:
RCV000020506
dbSNP Id:
rs80338798
PubMed:
PMID:20301557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585761C>T , CM000665.2:g.12585761C>T | GRCh38 |
| NC_000003.11:g.12627260C>T , CM000665.1:g.12627260C>T | GRCh37 |
| NC_000003.10:g.12602260C>T | NCBI36 |
| NG_007467.1:g.83419G>A , LRG_413:g.83419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1121G>A (RAF1) | ENSP00000401088.1:n.*1121G>A | |
| ENST00000432427.3:c.773G>A (RAF1) | ||
| ENST00000460610.2:n.5201G>A (RAF1) | ||
| ENST00000471449.2:n.266G>A (RAF1) | ||
| ENST00000475353.2:n.3169G>A (RAF1) | ||
| ENST00000684903.1:c.*1133G>A (RAF1) | ENSP00000508612.1:n.*1133G>A | |
| ENST00000685348.1:c.*1095-355G>A (RAF1) | ENSP00000510285.1:n.*1095-355G>A | |
| ENST00000685437.1:c.1357G>A (RAF1) | ENSP00000508794.1:p.Asp453Asn | |
| ENST00000685653.1:c.1456G>A (RAF1) | ENSP00000509968.1:p.Asp486Asn | |
| ENST00000685697.1:n.2191G>A (RAF1) | ||
| ENST00000685738.1:c.*420G>A (RAF1) | ENSP00000510156.1:n.*420G>A | |
| ENST00000686409.1:n.4298G>A (RAF1) | ||
| ENST00000686455.1:n.3610G>A (RAF1) | ||
| ENST00000686762.1:c.*15G>A (RAF1) | ENSP00000509767.1:n.*15G>A | |
| ENST00000687257.1:n.3483G>A (RAF1) | ||
| ENST00000687326.1:c.*2181G>A (RAF1) | ENSP00000509665.1:n.*2181G>A | |
| ENST00000687505.1:n.1574G>A (RAF1) | ||
| ENST00000687923.1:c.1345G>A (RAF1) | ENSP00000510255.1:p.Asp449Asn | |
| ENST00000688269.1:n.2052G>A (RAF1) | ||
| ENST00000688444.1:n.3573G>A (RAF1) | ||
| ENST00000688543.1:c.1357G>A (RAF1) | ENSP00000509612.1:p.Asp453Asn | |
| ENST00000688625.1:c.*2825G>A (RAF1) | ENSP00000509522.1:n.*2825G>A | |
| ENST00000688803.1:n.2965-508G>A (RAF1) | ||
| ENST00000688914.1:n.442G>A (RAF1) | ||
| ENST00000689097.1:c.*1133G>A (RAF1) | ENSP00000509756.1:n.*1133G>A | |
| ENST00000689389.1:c.1279G>A (RAF1) | ENSP00000510213.1:p.Asp427Asn | |
| ENST00000689418.1:c.*2924G>A (RAF1) | ENSP00000509467.1:n.*2924G>A | |
| ENST00000689540.1:n.3397G>A (RAF1) | ||
| ENST00000689876.1:c.1418-355G>A (RAF1) | ENSP00000508535.1:n.1418-355G>A | |
| ENST00000689914.1:c.*390G>A (RAF1) | ENSP00000509847.1:n.*390G>A | |
| ENST00000690397.1:c.1345G>A (RAF1) | ENSP00000508730.1:p.Asp449Asn | |
| ENST00000690460.1:c.1444G>A (RAF1) | ENSP00000509106.1:p.Asp482Asn | |
| ENST00000690585.1:c.263-508G>A (RAF1) | ||
| ENST00000690625.1:n.2492G>A (RAF1) | ||
| ENST00000691396.1:c.*1328G>A (RAF1) | ENSP00000510712.1:n.*1328G>A | |
| ENST00000691643.1:n.2082G>A (RAF1) | ||
| ENST00000691724.1:c.*413G>A (RAF1) | ENSP00000509255.1:n.*413G>A | |
| ENST00000691779.1:c.*1034G>A (RAF1) | ENSP00000508592.1:n.*1034G>A | |
| ENST00000691888.1:c.330G>A (RAF1) | ||
| ENST00000691899.1:c.1456G>A (RAF1) | ENSP00000508763.1:p.Asp486Asn | |
| ENST00000692069.1:n.3813G>A (RAF1) | ||
| ENST00000692093.1:c.1357G>A (RAF1) | ENSP00000509669.1:p.Asp453Asn | |
| ENST00000692311.1:n.2280G>A (RAF1) | ||
| ENST00000692558.1:n.3612G>A (RAF1) | ||
| ENST00000692773.1:c.*1193G>A (RAF1) | ENSP00000509055.1:n.*1193G>A | |
| ENST00000692830.1:c.*1201G>A (RAF1) | ENSP00000509461.1:n.*1201G>A | |
| ENST00000693312.1:c.1231G>A (RAF1) | ENSP00000508686.1:p.Asp411Asn | |
| ENST00000693664.1:c.1488-508G>A (RAF1) | ENSP00000509614.1:n.1488-508G>A | |
| ENST00000693705.1:c.*1048-780G>A (RAF1) | ENSP00000510697.1:n.*1048-780G>A | |
| ENST00000251849.9:c.1456G>A (RAF1) MANE Select | ENSP00000251849.4:p.Asp486Asn | |
| ENST00000442415.7:c.1516G>A (RAF1) | ENSP00000401888.2:p.Asp506Asn | |
| ENST00000676541.1:c.*3508C>T (MKRN2) | ENSP00000503730.1:n.*3508C>T | |
| ENST00000677142.1:c.*3508C>T (MKRN2) | ENSP00000504455.1:n.*3508C>T | |
| ENST00000677816.1:c.*2063C>T (MKRN2) | ENSP00000502893.1:n.*2063C>T | |
| ENST00000677941.1:n.3571C>T (MKRN2) | ||
| ENST00000251849.8:c.1456G>A (RAF1) | ENSP00000251849.4:p.Asp486Asn | |
| ENST00000423275.5:c.*1133G>A (RAF1) | ENSP00000401088.1:n.*1133G>A | |
| ENST00000432427.2:c.1093G>A (RAF1) | ENSP00000398591.2:p.Asp365Asn | |
| ENST00000442415.6:c.1516G>A (RAF1) | ENSP00000401888.2:p.Asp506Asn | |
| ENST00000471449.1:n.145G>A (RAF1) | ||
| NM_002880.3:c.1456G>A , LRG_413t1:c.1456G>A (RAF1) | NP_002871.1:p.Asp486Asn | |
| XM_005265355.1:c.1456G>A (RAF1) | XP_005265412.1:p.Asp486Asn | |
| XM_005265357.1:c.1357G>A (RAF1) | XP_005265414.1:p.Asp453Asn | |
| XM_005265358.3:c.1213G>A (RAF1) | XP_005265415.1:p.Asp405Asn | |
| XM_005265359.3:c.1114G>A (RAF1) | XP_005265416.1:p.Asp372Asn | |
| XM_005265360.1:c.1418-355G>A (RAF1) | XP_005265417.1:n.1418-355G>A | |
| XM_011533974.1:c.1456G>A (RAF1) | XP_011532276.1:p.Asp486Asn | |
| XM_011533975.1:c.1213G>A (RAF1) | XP_011532277.1:p.Asp405Asn | |
| NM_001354689.1:c.1516G>A (RAF1) | NP_001341618.1:p.Asp506Asn | |
| NM_001354690.1:c.1456G>A (RAF1) | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.1:c.1213G>A (RAF1) | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.1:c.1213G>A (RAF1) | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.1:c.1357G>A (RAF1) | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.1:c.1273G>A (RAF1) | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.1:c.1114G>A (RAF1) | NP_001341624.1:p.Asp372Asn | |
| NR_148940.1:n.1984G>A (RAF1) | ||
| NR_148941.1:n.1930G>A (RAF1) | ||
| NR_148942.1:n.1869G>A (RAF1) | ||
| XM_011533974.3:c.1456G>A (RAF1) | XP_011532276.1:p.Asp486Asn | |
| XM_017006966.1:c.1357G>A (RAF1) | XP_016862455.1:p.Asp453Asn | |
| NM_001354689.3:c.1516G>A (RAF1) | NP_001341618.1:p.Asp506Asn | |
| NM_001354690.2:c.1456G>A (RAF1) | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.2:c.1213G>A (RAF1) | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.2:c.1213G>A (RAF1) | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.2:c.1357G>A (RAF1) | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.2:c.1273G>A (RAF1) | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.2:c.1114G>A (RAF1) | NP_001341624.1:p.Asp372Asn | |
| NR_148940.2:n.1900G>A (RAF1) | ||
| NR_148941.2:n.1846G>A (RAF1) | ||
| NR_148942.2:n.1785G>A (RAF1) | ||
| NM_001354690.3:c.1456G>A (RAF1) | NP_001341619.1:p.Asp486Asn | |
| NM_001354691.3:c.1213G>A (RAF1) | NP_001341620.1:p.Asp405Asn | |
| NM_001354692.3:c.1213G>A (RAF1) | NP_001341621.1:p.Asp405Asn | |
| NM_001354693.3:c.1357G>A (RAF1) | NP_001341622.1:p.Asp453Asn | |
| NM_001354694.3:c.1273G>A (RAF1) | NP_001341623.1:p.Asp425Asn | |
| NM_001354695.3:c.1114G>A (RAF1) | NP_001341624.1:p.Asp372Asn | |
| NM_002880.4:c.1456G>A (RAF1) MANE Select | NP_002871.1:p.Asp486Asn | |
| NR_148940.3:n.1900G>A (RAF1) | ||
| NR_148941.3:n.1846G>A (RAF1) | ||
| NR_148942.3:n.1785G>A (RAF1) |