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.
Linked Data
gnomAD v4:
3-12585571-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585571C>A , CM000665.2:g.12585571C>A | GRCh38 |
| NC_000003.11:g.12627070C>A , CM000665.1:g.12627070C>A | GRCh37 |
| NC_000003.10:g.12602070C>A | NCBI36 |
| NG_007467.1:g.83609G>T , LRG_413:g.83609G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1201+110G>T (RAF1) | ENSP00000401088.1:n.*1201+110G>T | |
| ENST00000432427.3:c.853+110G>T (RAF1) | ||
| ENST00000460610.2:n.5391G>T (RAF1) | ||
| ENST00000471449.2:n.346+110G>T (RAF1) | ||
| ENST00000475353.2:n.3359G>T (RAF1) | ||
| ENST00000684903.1:c.*1213+110G>T (RAF1) | ENSP00000508612.1:n.*1213+110G>T | |
| ENST00000685348.1:c.*1095-165G>T (RAF1) | ENSP00000510285.1:n.*1095-165G>T | |
| ENST00000685437.1:c.1437+110G>T (RAF1) | ENSP00000508794.1:n.1437+110G>T | |
| ENST00000685653.1:c.1536+110G>T (RAF1) | ENSP00000509968.1:n.1536+110G>T | |
| ENST00000685697.1:n.2271+110G>T (RAF1) | ||
| ENST00000685738.1:c.*500+110G>T (RAF1) | ENSP00000510156.1:n.*500+110G>T | |
| ENST00000686409.1:n.4488G>T (RAF1) | ||
| ENST00000686455.1:n.3800G>T (RAF1) | ||
| ENST00000686762.1:c.*95+110G>T (RAF1) | ENSP00000509767.1:n.*95+110G>T | |
| ENST00000687257.1:n.3673G>T (RAF1) | ||
| ENST00000687326.1:c.*2371G>T (RAF1) | ENSP00000509665.1:n.*2371G>T | |
| ENST00000687505.1:n.1654+110G>T (RAF1) | ||
| ENST00000687923.1:c.1425+110G>T (RAF1) | ENSP00000510255.1:n.1425+110G>T | |
| ENST00000688269.1:n.2132+110G>T (RAF1) | ||
| ENST00000688444.1:n.3653+110G>T (RAF1) | ||
| ENST00000688543.1:c.1437+110G>T (RAF1) | ENSP00000509612.1:n.1437+110G>T | |
| ENST00000688625.1:c.*2905+110G>T (RAF1) | ENSP00000509522.1:n.*2905+110G>T | |
| ENST00000688803.1:n.2965-318G>T (RAF1) | ||
| ENST00000688914.1:n.632G>T (RAF1) | ||
| ENST00000689097.1:c.*1213+110G>T (RAF1) | ENSP00000509756.1:n.*1213+110G>T | |
| ENST00000689389.1:c.1359+110G>T (RAF1) | ENSP00000510213.1:n.1359+110G>T | |
| ENST00000689418.1:c.*3114G>T (RAF1) | ENSP00000509467.1:n.*3114G>T | |
| ENST00000689540.1:n.3587G>T (RAF1) | ||
| ENST00000689876.1:c.1418-165G>T (RAF1) | ENSP00000508535.1:n.1418-165G>T | |
| ENST00000689914.1:c.*470+110G>T (RAF1) | ENSP00000509847.1:n.*470+110G>T | |
| ENST00000690397.1:c.1425+110G>T (RAF1) | ENSP00000508730.1:n.1425+110G>T | |
| ENST00000690460.1:c.1524+110G>T (RAF1) | ENSP00000509106.1:n.1524+110G>T | |
| ENST00000690585.1:c.263-318G>T (RAF1) | ||
| ENST00000690625.1:n.2572+110G>T (RAF1) | ||
| ENST00000691396.1:c.*1408+110G>T (RAF1) | ENSP00000510712.1:n.*1408+110G>T | |
| ENST00000691643.1:n.2272G>T (RAF1) | ||
| ENST00000691724.1:c.*493+110G>T (RAF1) | ENSP00000509255.1:n.*493+110G>T | |
| ENST00000691779.1:c.*1114+110G>T (RAF1) | ENSP00000508592.1:n.*1114+110G>T | |
| ENST00000691888.1:c.410+110G>T (RAF1) | ||
| ENST00000691899.1:c.1536+110G>T (RAF1) | ENSP00000508763.1:n.1536+110G>T | |
| ENST00000692069.1:n.4003G>T (RAF1) | ||
| ENST00000692093.1:c.1437+110G>T (RAF1) | ENSP00000509669.1:n.1437+110G>T | |
| ENST00000692311.1:n.2360+110G>T (RAF1) | ||
| ENST00000692558.1:n.3802G>T (RAF1) | ||
| ENST00000692773.1:c.*1273+110G>T (RAF1) | ENSP00000509055.1:n.*1273+110G>T | |
| ENST00000692830.1:c.*1281+110G>T (RAF1) | ENSP00000509461.1:n.*1281+110G>T | |
| ENST00000693312.1:c.1311+110G>T (RAF1) | ENSP00000508686.1:n.1311+110G>T | |
| ENST00000693664.1:c.1488-318G>T (RAF1) | ENSP00000509614.1:n.1488-318G>T | |
| ENST00000693705.1:c.*1048-590G>T (RAF1) | ENSP00000510697.1:n.*1048-590G>T | |
| ENST00000251849.9:c.1536+110G>T (RAF1) MANE Select | ENSP00000251849.4:n.1536+110G>T | |
| ENST00000442415.7:c.1596+110G>T (RAF1) | ENSP00000401888.2:n.1596+110G>T | |
| ENST00000676541.1:c.*3318C>A (MKRN2) | ENSP00000503730.1:n.*3318C>A | |
| ENST00000677142.1:c.*3318C>A (MKRN2) | ENSP00000504455.1:n.*3318C>A | |
| ENST00000677816.1:c.*1873C>A (MKRN2) | ENSP00000502893.1:n.*1873C>A | |
| ENST00000677941.1:n.3381C>A (MKRN2) | ||
| ENST00000251849.8:c.1536+110G>T (RAF1) | ENSP00000251849.4:n.1536+110G>T | |
| ENST00000423275.5:c.*1213+110G>T (RAF1) | ENSP00000401088.1:n.*1213+110G>T | |
| ENST00000432427.2:c.1173+110G>T (RAF1) | ENSP00000398591.2:n.1173+110G>T | |
| ENST00000442415.6:c.1596+110G>T (RAF1) | ENSP00000401888.2:n.1596+110G>T | |
| ENST00000471449.1:n.225+110G>T (RAF1) | ||
| NM_002880.3:c.1536+110G>T , LRG_413t1:c.1536+110G>T (RAF1) | NP_002871.1:n.1536+110G>T | |
| XM_005265355.1:c.1536+110G>T (RAF1) | XP_005265412.1:n.1536+110G>T | |
| XM_005265357.1:c.1437+110G>T (RAF1) | XP_005265414.1:n.1437+110G>T | |
| XM_005265358.3:c.1293+110G>T (RAF1) | XP_005265415.1:n.1293+110G>T | |
| XM_005265359.3:c.1194+110G>T (RAF1) | XP_005265416.1:n.1194+110G>T | |
| XM_005265360.1:c.1418-165G>T (RAF1) | XP_005265417.1:n.1418-165G>T | |
| XM_011533974.1:c.1536+110G>T (RAF1) | XP_011532276.1:n.1536+110G>T | |
| XM_011533975.1:c.1293+110G>T (RAF1) | XP_011532277.1:n.1293+110G>T | |
| NM_001354689.1:c.1596+110G>T (RAF1) | NP_001341618.1:n.1596+110G>T | |
| NM_001354690.1:c.1536+110G>T (RAF1) | NP_001341619.1:n.1536+110G>T | |
| NM_001354691.1:c.1293+110G>T (RAF1) | NP_001341620.1:n.1293+110G>T | |
| NM_001354692.1:c.1293+110G>T (RAF1) | NP_001341621.1:n.1293+110G>T | |
| NM_001354693.1:c.1437+110G>T (RAF1) | NP_001341622.1:n.1437+110G>T | |
| NM_001354694.1:c.1353+110G>T (RAF1) | NP_001341623.1:n.1353+110G>T | |
| NM_001354695.1:c.1194+110G>T (RAF1) | NP_001341624.1:n.1194+110G>T | |
| NR_148940.1:n.2064+110G>T (RAF1) | ||
| NR_148941.1:n.2010+110G>T (RAF1) | ||
| NR_148942.1:n.1949+110G>T (RAF1) | ||
| XM_011533974.3:c.1536+110G>T (RAF1) | XP_011532276.1:n.1536+110G>T | |
| XM_017006966.1:c.1437+110G>T (RAF1) | XP_016862455.1:n.1437+110G>T | |
| NM_001354689.3:c.1596+110G>T (RAF1) | NP_001341618.1:n.1596+110G>T | |
| NM_001354690.2:c.1536+110G>T (RAF1) | NP_001341619.1:n.1536+110G>T | |
| NM_001354691.2:c.1293+110G>T (RAF1) | NP_001341620.1:n.1293+110G>T | |
| NM_001354692.2:c.1293+110G>T (RAF1) | NP_001341621.1:n.1293+110G>T | |
| NM_001354693.2:c.1437+110G>T (RAF1) | NP_001341622.1:n.1437+110G>T | |
| NM_001354694.2:c.1353+110G>T (RAF1) | NP_001341623.1:n.1353+110G>T | |
| NM_001354695.2:c.1194+110G>T (RAF1) | NP_001341624.1:n.1194+110G>T | |
| NR_148940.2:n.1980+110G>T (RAF1) | ||
| NR_148941.2:n.1926+110G>T (RAF1) | ||
| NR_148942.2:n.1865+110G>T (RAF1) | ||
| NM_001354690.3:c.1536+110G>T (RAF1) | NP_001341619.1:n.1536+110G>T | |
| NM_001354691.3:c.1293+110G>T (RAF1) | NP_001341620.1:n.1293+110G>T | |
| NM_001354692.3:c.1293+110G>T (RAF1) | NP_001341621.1:n.1293+110G>T | |
| NM_001354693.3:c.1437+110G>T (RAF1) | NP_001341622.1:n.1437+110G>T | |
| NM_001354694.3:c.1353+110G>T (RAF1) | NP_001341623.1:n.1353+110G>T | |
| NM_001354695.3:c.1194+110G>T (RAF1) | NP_001341624.1:n.1194+110G>T | |
| NM_002880.4:c.1536+110G>T (RAF1) MANE Select | NP_002871.1:n.1536+110G>T | |
| NR_148940.3:n.1980+110G>T (RAF1) | ||
| NR_148941.3:n.1926+110G>T (RAF1) | ||
| NR_148942.3:n.1865+110G>T (RAF1) |