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.12584431G= , CM000665.2:g.12584431G= | GRCh38 |
| NC_000003.11:g.12625930G= , CM000665.1:g.12625930G= | GRCh37 |
| NC_000003.10:g.12600930G= | NCBI36 |
| NG_007467.1:g.84749C= , LRG_413:g.84749C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1695C= (RAF1) | ENSP00000401088.1:n.*1695C= | |
| ENST00000432427.3:c.1347C= (RAF1) | ||
| ENST00000460610.2:n.6342C= (RAF1) | ||
| ENST00000471449.2:n.840C= (RAF1) | ||
| ENST00000475353.2:n.4310C= (RAF1) | ||
| ENST00000684903.1:c.*1707C= (RAF1) | ENSP00000508612.1:n.*1707C= | |
| ENST00000685348.1:c.*1741C= (RAF1) | ENSP00000510285.1:n.*1741C= | |
| ENST00000685437.1:c.*83C= (RAF1) | ENSP00000508794.1:n.*83C= | |
| ENST00000685653.1:c.*83C= (RAF1) | ENSP00000509968.1:n.*83C= | |
| ENST00000685697.1:n.2765C= (RAF1) | ||
| ENST00000685738.1:c.*994C= (RAF1) | ENSP00000510156.1:n.*994C= | |
| ENST00000686409.1:n.5439C= (RAF1) | ||
| ENST00000686455.1:n.4751C= (RAF1) | ||
| ENST00000686762.1:c.*589C= (RAF1) | ENSP00000509767.1:n.*589C= | |
| ENST00000687257.1:n.4484C= (RAF1) | ||
| ENST00000687326.1:c.*3322C= (RAF1) | ENSP00000509665.1:n.*3322C= | |
| ENST00000687505.1:n.2148C= (RAF1) | ||
| ENST00000687923.1:c.*83C= (RAF1) | ENSP00000510255.1:n.*83C= | |
| ENST00000688269.1:n.2626C= (RAF1) | ||
| ENST00000688444.1:n.4147C= (RAF1) | ||
| ENST00000688543.1:c.*83C= (RAF1) | ENSP00000509612.1:n.*83C= | |
| ENST00000688625.1:c.*3399C= (RAF1) | ENSP00000509522.1:n.*3399C= | |
| ENST00000688803.1:n.3458C= (RAF1) | ||
| ENST00000689097.1:c.*1707C= (RAF1) | ENSP00000509756.1:n.*1707C= | |
| ENST00000689389.1:c.*83C= (RAF1) | ENSP00000510213.1:n.*83C= | |
| ENST00000689418.1:c.*3925C= (RAF1) | ENSP00000509467.1:n.*3925C= | |
| ENST00000689540.1:n.4398C= (RAF1) | ||
| ENST00000689876.1:c.*579C= (RAF1) | ENSP00000508535.1:n.*579C= | |
| ENST00000689914.1:c.*964C= (RAF1) | ENSP00000509847.1:n.*964C= | |
| ENST00000690397.1:c.*83C= (RAF1) | ENSP00000508730.1:n.*83C= | |
| ENST00000690460.1:c.*83C= (RAF1) | ENSP00000509106.1:n.*83C= | |
| ENST00000690585.1:c.756C= (RAF1) | ||
| ENST00000690625.1:n.3066C= (RAF1) | ||
| ENST00000691396.1:c.*1902C= (RAF1) | ENSP00000510712.1:n.*1902C= | |
| ENST00000691643.1:n.3083C= (RAF1) | ||
| ENST00000691724.1:c.*987C= (RAF1) | ENSP00000509255.1:n.*987C= | |
| ENST00000691779.1:c.*1608C= (RAF1) | ENSP00000508592.1:n.*1608C= | |
| ENST00000691888.1:c.904C= (RAF1) | ||
| ENST00000691899.1:c.*83C= (RAF1) | ENSP00000508763.1:n.*83C= | |
| ENST00000692069.1:n.4954C= (RAF1) | ||
| ENST00000692093.1:c.*83C= (RAF1) | ENSP00000509669.1:n.*83C= | |
| ENST00000692311.1:n.2854C= (RAF1) | ||
| ENST00000692558.1:n.4613C= (RAF1) | ||
| ENST00000692773.1:c.*1767C= (RAF1) | ENSP00000509055.1:n.*1767C= | |
| ENST00000692830.1:c.*1775C= (RAF1) | ENSP00000509461.1:n.*1775C= | |
| ENST00000693312.1:c.*83C= (RAF1) | ENSP00000508686.1:n.*83C= | |
| ENST00000693664.1:c.*481C= (RAF1) | ENSP00000509614.1:n.*481C= | |
| ENST00000693705.1:c.*1409C= (RAF1) | ENSP00000510697.1:n.*1409C= | |
| ENST00000251849.9:c.*83C= (RAF1) MANE Select | ENSP00000251849.4:n.*83C= | |
| ENST00000442415.7:c.*83C= (RAF1) | ENSP00000401888.2:n.*83C= | |
| ENST00000676541.1:c.*2178G= (MKRN2) | ENSP00000503730.1:n.*2178G= | |
| ENST00000677142.1:c.*2178G= (MKRN2) | ENSP00000504455.1:n.*2178G= | |
| ENST00000677816.1:c.*733G= (MKRN2) | ENSP00000502893.1:n.*733G= | |
| ENST00000677941.1:n.2241G= (MKRN2) | ||
| ENST00000251849.8:c.*83C= (RAF1) | ENSP00000251849.4:n.*83C= | |
| ENST00000423275.5:c.*1707C= (RAF1) | ENSP00000401088.1:n.*1707C= | |
| ENST00000432427.2:c.1667C= (RAF1) | ENSP00000398591.2:n.1667C= | |
| ENST00000442415.6:c.*83C= (RAF1) | ENSP00000401888.2:n.*83C= | |
| ENST00000471449.1:n.719C= (RAF1) | ||
| NM_002880.3:c.*83C= , LRG_413t1:c.*83C= (RAF1) | NP_002871.1:n.*83C= | |
| XM_005265355.1:c.*83C= (RAF1) | XP_005265412.1:n.*83C= | |
| XM_005265357.1:c.*83C= (RAF1) | XP_005265414.1:n.*83C= | |
| XM_005265358.3:c.*83C= (RAF1) | XP_005265415.1:n.*83C= | |
| XM_005265359.3:c.*83C= (RAF1) | XP_005265416.1:n.*83C= | |
| XM_011533974.1:c.*83C= (RAF1) | XP_011532276.1:n.*83C= | |
| XM_011533975.1:c.*83C= (RAF1) | XP_011532277.1:n.*83C= | |
| NM_001354689.1:c.*83C= (RAF1) | NP_001341618.1:n.*83C= | |
| NM_001354690.1:c.*83C= (RAF1) | NP_001341619.1:n.*83C= | |
| NM_001354691.1:c.*83C= (RAF1) | NP_001341620.1:n.*83C= | |
| NM_001354692.1:c.*83C= (RAF1) | NP_001341621.1:n.*83C= | |
| NM_001354693.1:c.*83C= (RAF1) | NP_001341622.1:n.*83C= | |
| NM_001354694.1:c.*83C= (RAF1) | NP_001341623.1:n.*83C= | |
| NM_001354695.1:c.*83C= (RAF1) | NP_001341624.1:n.*83C= | |
| NR_148940.1:n.2558C= (RAF1) | ||
| NR_148941.1:n.2504C= (RAF1) | ||
| NR_148942.1:n.2443C= (RAF1) | ||
| XM_011533974.3:c.*83C= (RAF1) | XP_011532276.1:n.*83C= | |
| XM_017006966.1:c.*83C= (RAF1) | XP_016862455.1:n.*83C= | |
| NM_001354689.3:c.*83C= (RAF1) | NP_001341618.1:n.*83C= | |
| NM_001354690.2:c.*83C= (RAF1) | NP_001341619.1:n.*83C= | |
| NM_001354691.2:c.*83C= (RAF1) | NP_001341620.1:n.*83C= | |
| NM_001354692.2:c.*83C= (RAF1) | NP_001341621.1:n.*83C= | |
| NM_001354693.2:c.*83C= (RAF1) | NP_001341622.1:n.*83C= | |
| NM_001354694.2:c.*83C= (RAF1) | NP_001341623.1:n.*83C= | |
| NM_001354695.2:c.*83C= (RAF1) | NP_001341624.1:n.*83C= | |
| NR_148940.2:n.2474C= (RAF1) | ||
| NR_148941.2:n.2420C= (RAF1) | ||
| NR_148942.2:n.2359C= (RAF1) | ||
| NM_001354690.3:c.*83C= (RAF1) | NP_001341619.1:n.*83C= | |
| NM_001354691.3:c.*83C= (RAF1) | NP_001341620.1:n.*83C= | |
| NM_001354692.3:c.*83C= (RAF1) | NP_001341621.1:n.*83C= | |
| NM_001354693.3:c.*83C= (RAF1) | NP_001341622.1:n.*83C= | |
| NM_001354694.3:c.*83C= (RAF1) | NP_001341623.1:n.*83C= | |
| NM_001354695.3:c.*83C= (RAF1) | NP_001341624.1:n.*83C= | |
| NM_002880.4:c.*83C= (RAF1) MANE Select | NP_002871.1:n.*83C= | |
| NR_148940.3:n.2474C= (RAF1) | ||
| NR_148941.3:n.2420C= (RAF1) | ||
| NR_148942.3:n.2359C= (RAF1) |