Linked Data
ClinVar Variation Id:
40624
dbSNP Id:
rs3729931
ExAC:
3:12626516 G / A
gnomAD v2:
3-12626516-G-A
gnomAD v3:
3-12585017-G-A
gnomAD v4:
3-12585017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12585017G>A , CM000665.2:g.12585017G>A | GRCh38 |
| NC_000003.11:g.12626516G>A , CM000665.1:g.12626516G>A | GRCh37 |
| NC_000003.10:g.12601516G>A | NCBI36 |
| NG_007467.1:g.84163C>T , LRG_413:g.84163C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1334-36C>T (RAF1) | ENSP00000401088.1:n.*1334-36C>T | |
| ENST00000432427.3:c.986-36C>T (RAF1) | ||
| ENST00000460610.2:n.5945C>T (RAF1) | ||
| ENST00000471449.2:n.479-36C>T (RAF1) | ||
| ENST00000475353.2:n.3913C>T (RAF1) | ||
| ENST00000684903.1:c.*1346-36C>T (RAF1) | ENSP00000508612.1:n.*1346-36C>T | |
| ENST00000685348.1:c.*1380-36C>T (RAF1) | ENSP00000510285.1:n.*1380-36C>T | |
| ENST00000685437.1:c.1570-36C>T (RAF1) | ENSP00000508794.1:n.1570-36C>T | |
| ENST00000685653.1:c.1669-36C>T (RAF1) | ENSP00000509968.1:n.1669-36C>T | |
| ENST00000685697.1:n.2404-36C>T (RAF1) | ||
| ENST00000685738.1:c.*633-36C>T (RAF1) | ENSP00000510156.1:n.*633-36C>T | |
| ENST00000686409.1:n.5042C>T (RAF1) | ||
| ENST00000686455.1:n.4354C>T (RAF1) | ||
| ENST00000686762.1:c.*228-36C>T (RAF1) | ENSP00000509767.1:n.*228-36C>T | |
| ENST00000687257.1:n.4123-36C>T (RAF1) | ||
| ENST00000687326.1:c.*2925C>T (RAF1) | ENSP00000509665.1:n.*2925C>T | |
| ENST00000687505.1:n.1787-36C>T (RAF1) | ||
| ENST00000687923.1:c.1558-36C>T (RAF1) | ENSP00000510255.1:n.1558-36C>T | |
| ENST00000688269.1:n.2265-36C>T (RAF1) | ||
| ENST00000688444.1:n.3786-36C>T (RAF1) | ||
| ENST00000688543.1:c.1570-36C>T (RAF1) | ENSP00000509612.1:n.1570-36C>T | |
| ENST00000688625.1:c.*3038-36C>T (RAF1) | ENSP00000509522.1:n.*3038-36C>T | |
| ENST00000688803.1:n.3097-36C>T (RAF1) | ||
| ENST00000688914.1:n.1082-36C>T (RAF1) | ||
| ENST00000689097.1:c.*1346-36C>T (RAF1) | ENSP00000509756.1:n.*1346-36C>T | |
| ENST00000689389.1:c.1492-36C>T (RAF1) | ENSP00000510213.1:n.1492-36C>T | |
| ENST00000689418.1:c.*3564-36C>T (RAF1) | ENSP00000509467.1:n.*3564-36C>T | |
| ENST00000689540.1:n.4037-36C>T (RAF1) | ||
| ENST00000689876.1:c.*218-36C>T (RAF1) | ENSP00000508535.1:n.*218-36C>T | |
| ENST00000689914.1:c.*603-36C>T (RAF1) | ENSP00000509847.1:n.*603-36C>T | |
| ENST00000690397.1:c.1558-36C>T (RAF1) | ENSP00000508730.1:n.1558-36C>T | |
| ENST00000690460.1:c.1657-36C>T (RAF1) | ENSP00000509106.1:n.1657-36C>T | |
| ENST00000690585.1:c.395-36C>T (RAF1) | ||
| ENST00000690625.1:n.2705-36C>T (RAF1) | ||
| ENST00000691396.1:c.*1541-36C>T (RAF1) | ENSP00000510712.1:n.*1541-36C>T | |
| ENST00000691643.1:n.2722-36C>T (RAF1) | ||
| ENST00000691724.1:c.*626-36C>T (RAF1) | ENSP00000509255.1:n.*626-36C>T | |
| ENST00000691779.1:c.*1247-36C>T (RAF1) | ENSP00000508592.1:n.*1247-36C>T | |
| ENST00000691888.1:c.543-36C>T (RAF1) | ||
| ENST00000691899.1:c.1669-36C>T (RAF1) | ENSP00000508763.1:n.1669-36C>T | |
| ENST00000692069.1:n.4557C>T (RAF1) | ||
| ENST00000692093.1:c.1570-36C>T (RAF1) | ENSP00000509669.1:n.1570-36C>T | |
| ENST00000692311.1:n.2493-36C>T (RAF1) | ||
| ENST00000692558.1:n.4252-36C>T (RAF1) | ||
| ENST00000692773.1:c.*1406-36C>T (RAF1) | ENSP00000509055.1:n.*1406-36C>T | |
| ENST00000692830.1:c.*1414-36C>T (RAF1) | ENSP00000509461.1:n.*1414-36C>T | |
| ENST00000693312.1:c.1444-36C>T (RAF1) | ENSP00000508686.1:n.1444-36C>T | |
| ENST00000693664.1:c.*120-36C>T (RAF1) | ENSP00000509614.1:n.*120-36C>T | |
| ENST00000693705.1:c.*1048-36C>T (RAF1) | ENSP00000510697.1:n.*1048-36C>T | |
| ENST00000251849.9:c.1669-36C>T (RAF1) MANE Select | ENSP00000251849.4:n.1669-36C>T | |
| ENST00000442415.7:c.1729-36C>T (RAF1) | ENSP00000401888.2:n.1729-36C>T | |
| ENST00000676541.1:c.*2764G>A (MKRN2) | ENSP00000503730.1:n.*2764G>A | |
| ENST00000677142.1:c.*2764G>A (MKRN2) | ENSP00000504455.1:n.*2764G>A | |
| ENST00000677816.1:c.*1319G>A (MKRN2) | ENSP00000502893.1:n.*1319G>A | |
| ENST00000677941.1:n.2827G>A (MKRN2) | ||
| ENST00000251849.8:c.1669-36C>T (RAF1) | ENSP00000251849.4:n.1669-36C>T | |
| ENST00000423275.5:c.*1346-36C>T (RAF1) | ENSP00000401088.1:n.*1346-36C>T | |
| ENST00000432427.2:c.1306-36C>T (RAF1) | ENSP00000398591.2:n.1306-36C>T | |
| ENST00000442415.6:c.1729-36C>T (RAF1) | ENSP00000401888.2:n.1729-36C>T | |
| ENST00000471449.1:n.358-36C>T (RAF1) | ||
| NM_002880.3:c.1669-36C>T , LRG_413t1:c.1669-36C>T (RAF1) | NP_002871.1:n.1669-36C>T | |
| XM_005265355.1:c.1669-36C>T (RAF1) | XP_005265412.1:n.1669-36C>T | |
| XM_005265357.1:c.1570-36C>T (RAF1) | XP_005265414.1:n.1570-36C>T | |
| XM_005265358.3:c.1426-36C>T (RAF1) | XP_005265415.1:n.1426-36C>T | |
| XM_005265359.3:c.1327-36C>T (RAF1) | XP_005265416.1:n.1327-36C>T | |
| XM_011533974.1:c.1669-36C>T (RAF1) | XP_011532276.1:n.1669-36C>T | |
| XM_011533975.1:c.1426-36C>T (RAF1) | XP_011532277.1:n.1426-36C>T | |
| NM_001354689.1:c.1729-36C>T (RAF1) | NP_001341618.1:n.1729-36C>T | |
| NM_001354690.1:c.1669-36C>T (RAF1) | NP_001341619.1:n.1669-36C>T | |
| NM_001354691.1:c.1426-36C>T (RAF1) | NP_001341620.1:n.1426-36C>T | |
| NM_001354692.1:c.1426-36C>T (RAF1) | NP_001341621.1:n.1426-36C>T | |
| NM_001354693.1:c.1570-36C>T (RAF1) | NP_001341622.1:n.1570-36C>T | |
| NM_001354694.1:c.1486-36C>T (RAF1) | NP_001341623.1:n.1486-36C>T | |
| NM_001354695.1:c.1327-36C>T (RAF1) | NP_001341624.1:n.1327-36C>T | |
| NR_148940.1:n.2197-36C>T (RAF1) | ||
| NR_148941.1:n.2143-36C>T (RAF1) | ||
| NR_148942.1:n.2082-36C>T (RAF1) | ||
| XM_011533974.3:c.1669-36C>T (RAF1) | XP_011532276.1:n.1669-36C>T | |
| XM_017006966.1:c.1570-36C>T (RAF1) | XP_016862455.1:n.1570-36C>T | |
| NM_001354689.3:c.1729-36C>T (RAF1) | NP_001341618.1:n.1729-36C>T | |
| NM_001354690.2:c.1669-36C>T (RAF1) | NP_001341619.1:n.1669-36C>T | |
| NM_001354691.2:c.1426-36C>T (RAF1) | NP_001341620.1:n.1426-36C>T | |
| NM_001354692.2:c.1426-36C>T (RAF1) | NP_001341621.1:n.1426-36C>T | |
| NM_001354693.2:c.1570-36C>T (RAF1) | NP_001341622.1:n.1570-36C>T | |
| NM_001354694.2:c.1486-36C>T (RAF1) | NP_001341623.1:n.1486-36C>T | |
| NM_001354695.2:c.1327-36C>T (RAF1) | NP_001341624.1:n.1327-36C>T | |
| NR_148940.2:n.2113-36C>T (RAF1) | ||
| NR_148941.2:n.2059-36C>T (RAF1) | ||
| NR_148942.2:n.1998-36C>T (RAF1) | ||
| NM_001354690.3:c.1669-36C>T (RAF1) | NP_001341619.1:n.1669-36C>T | |
| NM_001354691.3:c.1426-36C>T (RAF1) | NP_001341620.1:n.1426-36C>T | |
| NM_001354692.3:c.1426-36C>T (RAF1) | NP_001341621.1:n.1426-36C>T | |
| NM_001354693.3:c.1570-36C>T (RAF1) | NP_001341622.1:n.1570-36C>T | |
| NM_001354694.3:c.1486-36C>T (RAF1) | NP_001341623.1:n.1486-36C>T | |
| NM_001354695.3:c.1327-36C>T (RAF1) | NP_001341624.1:n.1327-36C>T | |
| NM_002880.4:c.1669-36C>T (RAF1) MANE Select | NP_002871.1:n.1669-36C>T | |
| NR_148940.3:n.2113-36C>T (RAF1) | ||
| NR_148941.3:n.2059-36C>T (RAF1) | ||
| NR_148942.3:n.1998-36C>T (RAF1) |