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.12584425T= , CM000665.2:g.12584425T= | GRCh38 |
| NC_000003.11:g.12625924T= , CM000665.1:g.12625924T= | GRCh37 |
| NC_000003.10:g.12600924T= | NCBI36 |
| NG_007467.1:g.84755A= , LRG_413:g.84755A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1701A= (RAF1) | ENSP00000401088.1:n.*1701A= | |
| ENST00000432427.3:c.1353A= (RAF1) | ||
| ENST00000460610.2:n.6348A= (RAF1) | ||
| ENST00000471449.2:n.846A= (RAF1) | ||
| ENST00000475353.2:n.4316A= (RAF1) | ||
| ENST00000684903.1:c.*1713A= (RAF1) | ENSP00000508612.1:n.*1713A= | |
| ENST00000685348.1:c.*1747A= (RAF1) | ENSP00000510285.1:n.*1747A= | |
| ENST00000685437.1:c.*89A= (RAF1) | ENSP00000508794.1:n.*89A= | |
| ENST00000685653.1:c.*89A= (RAF1) | ENSP00000509968.1:n.*89A= | |
| ENST00000685697.1:n.2771A= (RAF1) | ||
| ENST00000685738.1:c.*1000A= (RAF1) | ENSP00000510156.1:n.*1000A= | |
| ENST00000686409.1:n.5445A= (RAF1) | ||
| ENST00000686455.1:n.4757A= (RAF1) | ||
| ENST00000686762.1:c.*595A= (RAF1) | ENSP00000509767.1:n.*595A= | |
| ENST00000687257.1:n.4490A= (RAF1) | ||
| ENST00000687326.1:c.*3328A= (RAF1) | ENSP00000509665.1:n.*3328A= | |
| ENST00000687505.1:n.2154A= (RAF1) | ||
| ENST00000687923.1:c.*89A= (RAF1) | ENSP00000510255.1:n.*89A= | |
| ENST00000688269.1:n.2632A= (RAF1) | ||
| ENST00000688444.1:n.4153A= (RAF1) | ||
| ENST00000688543.1:c.*89A= (RAF1) | ENSP00000509612.1:n.*89A= | |
| ENST00000688625.1:c.*3405A= (RAF1) | ENSP00000509522.1:n.*3405A= | |
| ENST00000688803.1:n.3464A= (RAF1) | ||
| ENST00000689097.1:c.*1713A= (RAF1) | ENSP00000509756.1:n.*1713A= | |
| ENST00000689389.1:c.*89A= (RAF1) | ENSP00000510213.1:n.*89A= | |
| ENST00000689418.1:c.*3931A= (RAF1) | ENSP00000509467.1:n.*3931A= | |
| ENST00000689540.1:n.4404A= (RAF1) | ||
| ENST00000689876.1:c.*585A= (RAF1) | ENSP00000508535.1:n.*585A= | |
| ENST00000689914.1:c.*970A= (RAF1) | ENSP00000509847.1:n.*970A= | |
| ENST00000690397.1:c.*89A= (RAF1) | ENSP00000508730.1:n.*89A= | |
| ENST00000690460.1:c.*89A= (RAF1) | ENSP00000509106.1:n.*89A= | |
| ENST00000690585.1:c.762A= (RAF1) | ||
| ENST00000690625.1:n.3072A= (RAF1) | ||
| ENST00000691396.1:c.*1908A= (RAF1) | ENSP00000510712.1:n.*1908A= | |
| ENST00000691643.1:n.3089A= (RAF1) | ||
| ENST00000691724.1:c.*993A= (RAF1) | ENSP00000509255.1:n.*993A= | |
| ENST00000691779.1:c.*1614A= (RAF1) | ENSP00000508592.1:n.*1614A= | |
| ENST00000691888.1:c.910A= (RAF1) | ||
| ENST00000691899.1:c.*89A= (RAF1) | ENSP00000508763.1:n.*89A= | |
| ENST00000692069.1:n.4960A= (RAF1) | ||
| ENST00000692093.1:c.*89A= (RAF1) | ENSP00000509669.1:n.*89A= | |
| ENST00000692311.1:n.2860A= (RAF1) | ||
| ENST00000692558.1:n.4619A= (RAF1) | ||
| ENST00000692773.1:c.*1773A= (RAF1) | ENSP00000509055.1:n.*1773A= | |
| ENST00000692830.1:c.*1781A= (RAF1) | ENSP00000509461.1:n.*1781A= | |
| ENST00000693312.1:c.*89A= (RAF1) | ENSP00000508686.1:n.*89A= | |
| ENST00000693664.1:c.*487A= (RAF1) | ENSP00000509614.1:n.*487A= | |
| ENST00000693705.1:c.*1415A= (RAF1) | ENSP00000510697.1:n.*1415A= | |
| ENST00000251849.9:c.*89A= (RAF1) MANE Select | ENSP00000251849.4:n.*89A= | |
| ENST00000442415.7:c.*89A= (RAF1) | ENSP00000401888.2:n.*89A= | |
| ENST00000676541.1:c.*2172T= (MKRN2) | ENSP00000503730.1:n.*2172T= | |
| ENST00000677142.1:c.*2172T= (MKRN2) | ENSP00000504455.1:n.*2172T= | |
| ENST00000677816.1:c.*727T= (MKRN2) | ENSP00000502893.1:n.*727T= | |
| ENST00000677941.1:n.2235T= (MKRN2) | ||
| ENST00000251849.8:c.*89A= (RAF1) | ENSP00000251849.4:n.*89A= | |
| ENST00000423275.5:c.*1713A= (RAF1) | ENSP00000401088.1:n.*1713A= | |
| ENST00000432427.2:c.1673A= (RAF1) | ENSP00000398591.2:n.1673A= | |
| ENST00000442415.6:c.*89A= (RAF1) | ENSP00000401888.2:n.*89A= | |
| ENST00000471449.1:n.725A= (RAF1) | ||
| NM_002880.3:c.*89A= , LRG_413t1:c.*89A= (RAF1) | NP_002871.1:n.*89A= | |
| XM_005265355.1:c.*89A= (RAF1) | XP_005265412.1:n.*89A= | |
| XM_005265357.1:c.*89A= (RAF1) | XP_005265414.1:n.*89A= | |
| XM_005265358.3:c.*89A= (RAF1) | XP_005265415.1:n.*89A= | |
| XM_005265359.3:c.*89A= (RAF1) | XP_005265416.1:n.*89A= | |
| XM_011533974.1:c.*89A= (RAF1) | XP_011532276.1:n.*89A= | |
| XM_011533975.1:c.*89A= (RAF1) | XP_011532277.1:n.*89A= | |
| NM_001354689.1:c.*89A= (RAF1) | NP_001341618.1:n.*89A= | |
| NM_001354690.1:c.*89A= (RAF1) | NP_001341619.1:n.*89A= | |
| NM_001354691.1:c.*89A= (RAF1) | NP_001341620.1:n.*89A= | |
| NM_001354692.1:c.*89A= (RAF1) | NP_001341621.1:n.*89A= | |
| NM_001354693.1:c.*89A= (RAF1) | NP_001341622.1:n.*89A= | |
| NM_001354694.1:c.*89A= (RAF1) | NP_001341623.1:n.*89A= | |
| NM_001354695.1:c.*89A= (RAF1) | NP_001341624.1:n.*89A= | |
| NR_148940.1:n.2564A= (RAF1) | ||
| NR_148941.1:n.2510A= (RAF1) | ||
| NR_148942.1:n.2449A= (RAF1) | ||
| XM_011533974.3:c.*89A= (RAF1) | XP_011532276.1:n.*89A= | |
| XM_017006966.1:c.*89A= (RAF1) | XP_016862455.1:n.*89A= | |
| NM_001354689.3:c.*89A= (RAF1) | NP_001341618.1:n.*89A= | |
| NM_001354690.2:c.*89A= (RAF1) | NP_001341619.1:n.*89A= | |
| NM_001354691.2:c.*89A= (RAF1) | NP_001341620.1:n.*89A= | |
| NM_001354692.2:c.*89A= (RAF1) | NP_001341621.1:n.*89A= | |
| NM_001354693.2:c.*89A= (RAF1) | NP_001341622.1:n.*89A= | |
| NM_001354694.2:c.*89A= (RAF1) | NP_001341623.1:n.*89A= | |
| NM_001354695.2:c.*89A= (RAF1) | NP_001341624.1:n.*89A= | |
| NR_148940.2:n.2480A= (RAF1) | ||
| NR_148941.2:n.2426A= (RAF1) | ||
| NR_148942.2:n.2365A= (RAF1) | ||
| NM_001354690.3:c.*89A= (RAF1) | NP_001341619.1:n.*89A= | |
| NM_001354691.3:c.*89A= (RAF1) | NP_001341620.1:n.*89A= | |
| NM_001354692.3:c.*89A= (RAF1) | NP_001341621.1:n.*89A= | |
| NM_001354693.3:c.*89A= (RAF1) | NP_001341622.1:n.*89A= | |
| NM_001354694.3:c.*89A= (RAF1) | NP_001341623.1:n.*89A= | |
| NM_001354695.3:c.*89A= (RAF1) | NP_001341624.1:n.*89A= | |
| NM_002880.4:c.*89A= (RAF1) MANE Select | NP_002871.1:n.*89A= | |
| NR_148940.3:n.2480A= (RAF1) | ||
| NR_148941.3:n.2426A= (RAF1) | ||
| NR_148942.3:n.2365A= (RAF1) |