UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584550G>A , CM000665.2:g.12584550G>A | GRCh38 |
| NC_000003.11:g.12626049G>A , CM000665.1:g.12626049G>A | GRCh37 |
| NC_000003.10:g.12601049G>A | NCBI36 |
| NG_007467.1:g.84630C>T , LRG_413:g.84630C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1576C>T (RAF1) | ENSP00000401088.1:n.*1576C>T | |
| ENST00000432427.3:c.1228C>T (RAF1) | ||
| ENST00000460610.2:n.6223C>T (RAF1) | ||
| ENST00000471449.2:n.721C>T (RAF1) | ||
| ENST00000475353.2:n.4191C>T (RAF1) | ||
| ENST00000684903.1:c.*1588C>T (RAF1) | ENSP00000508612.1:n.*1588C>T | |
| ENST00000685348.1:c.*1622C>T (RAF1) | ENSP00000510285.1:n.*1622C>T | |
| ENST00000685437.1:c.1812C>T (RAF1) | ENSP00000508794.1:p.Cys604= | |
| ENST00000685653.1:c.1911C>T (RAF1) | ENSP00000509968.1:p.Cys637= | |
| ENST00000685697.1:n.2646C>T (RAF1) | ||
| ENST00000685738.1:c.*875C>T (RAF1) | ENSP00000510156.1:n.*875C>T | |
| ENST00000686409.1:n.5320C>T (RAF1) | ||
| ENST00000686455.1:n.4632C>T (RAF1) | ||
| ENST00000686762.1:c.*470C>T (RAF1) | ENSP00000509767.1:n.*470C>T | |
| ENST00000687257.1:n.4365C>T (RAF1) | ||
| ENST00000687326.1:c.*3203C>T (RAF1) | ENSP00000509665.1:n.*3203C>T | |
| ENST00000687505.1:n.2029C>T (RAF1) | ||
| ENST00000687923.1:c.1800C>T (RAF1) | ENSP00000510255.1:p.Cys600= | |
| ENST00000688269.1:n.2507C>T (RAF1) | ||
| ENST00000688444.1:n.4028C>T (RAF1) | ||
| ENST00000688543.1:c.1812C>T (RAF1) | ENSP00000509612.1:p.Cys604= | |
| ENST00000688625.1:c.*3280C>T (RAF1) | ENSP00000509522.1:n.*3280C>T | |
| ENST00000688803.1:n.3339C>T (RAF1) | ||
| ENST00000689097.1:c.*1588C>T (RAF1) | ENSP00000509756.1:n.*1588C>T | |
| ENST00000689389.1:c.1734C>T (RAF1) | ENSP00000510213.1:p.Cys578= | |
| ENST00000689418.1:c.*3806C>T (RAF1) | ENSP00000509467.1:n.*3806C>T | |
| ENST00000689540.1:n.4279C>T (RAF1) | ||
| ENST00000689876.1:c.*460C>T (RAF1) | ENSP00000508535.1:n.*460C>T | |
| ENST00000689914.1:c.*845C>T (RAF1) | ENSP00000509847.1:n.*845C>T | |
| ENST00000690397.1:c.1800C>T (RAF1) | ENSP00000508730.1:p.Cys600= | |
| ENST00000690460.1:c.1899C>T (RAF1) | ENSP00000509106.1:p.Cys633= | |
| ENST00000690585.1:c.637C>T (RAF1) | ||
| ENST00000690625.1:n.2947C>T (RAF1) | ||
| ENST00000691396.1:c.*1783C>T (RAF1) | ENSP00000510712.1:n.*1783C>T | |
| ENST00000691643.1:n.2964C>T (RAF1) | ||
| ENST00000691724.1:c.*868C>T (RAF1) | ENSP00000509255.1:n.*868C>T | |
| ENST00000691779.1:c.*1489C>T (RAF1) | ENSP00000508592.1:n.*1489C>T | |
| ENST00000691888.1:c.785C>T (RAF1) | ||
| ENST00000691899.1:c.1911C>T (RAF1) | ENSP00000508763.1:p.Cys637= | |
| ENST00000692069.1:n.4835C>T (RAF1) | ||
| ENST00000692093.1:c.1812C>T (RAF1) | ENSP00000509669.1:p.Cys604= | |
| ENST00000692311.1:n.2735C>T (RAF1) | ||
| ENST00000692558.1:n.4494C>T (RAF1) | ||
| ENST00000692773.1:c.*1648C>T (RAF1) | ENSP00000509055.1:n.*1648C>T | |
| ENST00000692830.1:c.*1656C>T (RAF1) | ENSP00000509461.1:n.*1656C>T | |
| ENST00000693312.1:c.1686C>T (RAF1) | ENSP00000508686.1:p.Cys562= | |
| ENST00000693664.1:c.*362C>T (RAF1) | ENSP00000509614.1:n.*362C>T | |
| ENST00000693705.1:c.*1290C>T (RAF1) | ENSP00000510697.1:n.*1290C>T | |
| ENST00000251849.9:c.1911C>T (RAF1) MANE Select | ENSP00000251849.4:p.Cys637= | |
| ENST00000442415.7:c.1971C>T (RAF1) | ENSP00000401888.2:p.Cys657= | |
| ENST00000676541.1:c.*2297G>A (MKRN2) | ENSP00000503730.1:n.*2297G>A | |
| ENST00000677142.1:c.*2297G>A (MKRN2) | ENSP00000504455.1:n.*2297G>A | |
| ENST00000677816.1:c.*852G>A (MKRN2) | ENSP00000502893.1:n.*852G>A | |
| ENST00000677941.1:n.2360G>A (MKRN2) | ||
| ENST00000251849.8:c.1911C>T (RAF1) | ENSP00000251849.4:p.Cys637= | |
| ENST00000423275.5:c.*1588C>T (RAF1) | ENSP00000401088.1:n.*1588C>T | |
| ENST00000432427.2:c.1548C>T (RAF1) | ENSP00000398591.2:p.Cys516= | |
| ENST00000442415.6:c.1971C>T (RAF1) | ENSP00000401888.2:p.Cys657= | |
| ENST00000471449.1:n.600C>T (RAF1) | ||
| NM_002880.3:c.1911C>T , LRG_413t1:c.1911C>T (RAF1) | NP_002871.1:p.Cys637= | |
| XM_005265355.1:c.1911C>T (RAF1) | XP_005265412.1:p.Cys637= | |
| XM_005265357.1:c.1812C>T (RAF1) | XP_005265414.1:p.Cys604= | |
| XM_005265358.3:c.1668C>T (RAF1) | XP_005265415.1:p.Cys556= | |
| XM_005265359.3:c.1569C>T (RAF1) | XP_005265416.1:p.Cys523= | |
| XM_011533974.1:c.1911C>T (RAF1) | XP_011532276.1:p.Cys637= | |
| XM_011533975.1:c.1668C>T (RAF1) | XP_011532277.1:p.Cys556= | |
| NM_001354689.1:c.1971C>T (RAF1) | NP_001341618.1:p.Cys657= | |
| NM_001354690.1:c.1911C>T (RAF1) | NP_001341619.1:p.Cys637= | |
| NM_001354691.1:c.1668C>T (RAF1) | NP_001341620.1:p.Cys556= | |
| NM_001354692.1:c.1668C>T (RAF1) | NP_001341621.1:p.Cys556= | |
| NM_001354693.1:c.1812C>T (RAF1) | NP_001341622.1:p.Cys604= | |
| NM_001354694.1:c.1728C>T (RAF1) | NP_001341623.1:p.Cys576= | |
| NM_001354695.1:c.1569C>T (RAF1) | NP_001341624.1:p.Cys523= | |
| NR_148940.1:n.2439C>T (RAF1) | ||
| NR_148941.1:n.2385C>T (RAF1) | ||
| NR_148942.1:n.2324C>T (RAF1) | ||
| XM_011533974.3:c.1911C>T (RAF1) | XP_011532276.1:p.Cys637= | |
| XM_017006966.1:c.1812C>T (RAF1) | XP_016862455.1:p.Cys604= | |
| NM_001354689.3:c.1971C>T (RAF1) | NP_001341618.1:p.Cys657= | |
| NM_001354690.2:c.1911C>T (RAF1) | NP_001341619.1:p.Cys637= | |
| NM_001354691.2:c.1668C>T (RAF1) | NP_001341620.1:p.Cys556= | |
| NM_001354692.2:c.1668C>T (RAF1) | NP_001341621.1:p.Cys556= | |
| NM_001354693.2:c.1812C>T (RAF1) | NP_001341622.1:p.Cys604= | |
| NM_001354694.2:c.1728C>T (RAF1) | NP_001341623.1:p.Cys576= | |
| NM_001354695.2:c.1569C>T (RAF1) | NP_001341624.1:p.Cys523= | |
| NR_148940.2:n.2355C>T (RAF1) | ||
| NR_148941.2:n.2301C>T (RAF1) | ||
| NR_148942.2:n.2240C>T (RAF1) | ||
| NM_001354690.3:c.1911C>T (RAF1) | NP_001341619.1:p.Cys637= | |
| NM_001354691.3:c.1668C>T (RAF1) | NP_001341620.1:p.Cys556= | |
| NM_001354692.3:c.1668C>T (RAF1) | NP_001341621.1:p.Cys556= | |
| NM_001354693.3:c.1812C>T (RAF1) | NP_001341622.1:p.Cys604= | |
| NM_001354694.3:c.1728C>T (RAF1) | NP_001341623.1:p.Cys576= | |
| NM_001354695.3:c.1569C>T (RAF1) | NP_001341624.1:p.Cys523= | |
| NM_002880.4:c.1911C>T (RAF1) MANE Select | NP_002871.1:p.Cys637= | |
| NR_148940.3:n.2355C>T (RAF1) | ||
| NR_148941.3:n.2301C>T (RAF1) | ||
| NR_148942.3:n.2240C>T (RAF1) |