Linked Data
ClinVar Variation Id:
44623
ClinVar RCV Id:
RCV000037685
RCV000149840
RCV000252430
RCV000857577
RCV001143979
RCV001145869
RCV001813331
dbSNP Id:
rs3730297
ExAC:
3:12626019 G / A
gnomAD v2:
3-12626019-G-A
gnomAD v3:
3-12584520-G-A
gnomAD v4:
3-12584520-G-A
ERepo:
CA134718/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584520G>A , CM000665.2:g.12584520G>A | GRCh38 |
| NC_000003.11:g.12626019G>A , CM000665.1:g.12626019G>A | GRCh37 |
| NC_000003.10:g.12601019G>A | NCBI36 |
| NG_007467.1:g.84660C>T , LRG_413:g.84660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1606C>T (RAF1) | ENSP00000401088.1:n.*1606C>T | |
| ENST00000432427.3:c.1258C>T (RAF1) | ||
| ENST00000460610.2:n.6253C>T (RAF1) | ||
| ENST00000471449.2:n.751C>T (RAF1) | ||
| ENST00000475353.2:n.4221C>T (RAF1) | ||
| ENST00000684903.1:c.*1618C>T (RAF1) | ENSP00000508612.1:n.*1618C>T | |
| ENST00000685348.1:c.*1652C>T (RAF1) | ENSP00000510285.1:n.*1652C>T | |
| ENST00000685437.1:c.1842C>T (RAF1) | ENSP00000508794.1:p.Val614= | |
| ENST00000685653.1:c.1941C>T (RAF1) | ENSP00000509968.1:p.Val647= | |
| ENST00000685697.1:n.2676C>T (RAF1) | ||
| ENST00000685738.1:c.*905C>T (RAF1) | ENSP00000510156.1:n.*905C>T | |
| ENST00000686409.1:n.5350C>T (RAF1) | ||
| ENST00000686455.1:n.4662C>T (RAF1) | ||
| ENST00000686762.1:c.*500C>T (RAF1) | ENSP00000509767.1:n.*500C>T | |
| ENST00000687257.1:n.4395C>T (RAF1) | ||
| ENST00000687326.1:c.*3233C>T (RAF1) | ENSP00000509665.1:n.*3233C>T | |
| ENST00000687505.1:n.2059C>T (RAF1) | ||
| ENST00000687923.1:c.1830C>T (RAF1) | ENSP00000510255.1:p.Val610= | |
| ENST00000688269.1:n.2537C>T (RAF1) | ||
| ENST00000688444.1:n.4058C>T (RAF1) | ||
| ENST00000688543.1:c.1842C>T (RAF1) | ENSP00000509612.1:p.Val614= | |
| ENST00000688625.1:c.*3310C>T (RAF1) | ENSP00000509522.1:n.*3310C>T | |
| ENST00000688803.1:n.3369C>T (RAF1) | ||
| ENST00000689097.1:c.*1618C>T (RAF1) | ENSP00000509756.1:n.*1618C>T | |
| ENST00000689389.1:c.1764C>T (RAF1) | ENSP00000510213.1:p.Val588= | |
| ENST00000689418.1:c.*3836C>T (RAF1) | ENSP00000509467.1:n.*3836C>T | |
| ENST00000689540.1:n.4309C>T (RAF1) | ||
| ENST00000689876.1:c.*490C>T (RAF1) | ENSP00000508535.1:n.*490C>T | |
| ENST00000689914.1:c.*875C>T (RAF1) | ENSP00000509847.1:n.*875C>T | |
| ENST00000690397.1:c.1830C>T (RAF1) | ENSP00000508730.1:p.Val610= | |
| ENST00000690460.1:c.1929C>T (RAF1) | ENSP00000509106.1:p.Val643= | |
| ENST00000690585.1:c.667C>T (RAF1) | ||
| ENST00000690625.1:n.2977C>T (RAF1) | ||
| ENST00000691396.1:c.*1813C>T (RAF1) | ENSP00000510712.1:n.*1813C>T | |
| ENST00000691643.1:n.2994C>T (RAF1) | ||
| ENST00000691724.1:c.*898C>T (RAF1) | ENSP00000509255.1:n.*898C>T | |
| ENST00000691779.1:c.*1519C>T (RAF1) | ENSP00000508592.1:n.*1519C>T | |
| ENST00000691888.1:c.815C>T (RAF1) | ||
| ENST00000691899.1:c.1941C>T (RAF1) | ENSP00000508763.1:p.Val647= | |
| ENST00000692069.1:n.4865C>T (RAF1) | ||
| ENST00000692093.1:c.1842C>T (RAF1) | ENSP00000509669.1:p.Val614= | |
| ENST00000692311.1:n.2765C>T (RAF1) | ||
| ENST00000692558.1:n.4524C>T (RAF1) | ||
| ENST00000692773.1:c.*1678C>T (RAF1) | ENSP00000509055.1:n.*1678C>T | |
| ENST00000692830.1:c.*1686C>T (RAF1) | ENSP00000509461.1:n.*1686C>T | |
| ENST00000693312.1:c.1716C>T (RAF1) | ENSP00000508686.1:p.Val572= | |
| ENST00000693664.1:c.*392C>T (RAF1) | ENSP00000509614.1:n.*392C>T | |
| ENST00000693705.1:c.*1320C>T (RAF1) | ENSP00000510697.1:n.*1320C>T | |
| ENST00000251849.9:c.1941C>T (RAF1) MANE Select | ENSP00000251849.4:p.Val647= | |
| ENST00000442415.7:c.2001C>T (RAF1) | ENSP00000401888.2:p.Val667= | |
| ENST00000676541.1:c.*2267G>A (MKRN2) | ENSP00000503730.1:n.*2267G>A | |
| ENST00000677142.1:c.*2267G>A (MKRN2) | ENSP00000504455.1:n.*2267G>A | |
| ENST00000677816.1:c.*822G>A (MKRN2) | ENSP00000502893.1:n.*822G>A | |
| ENST00000677941.1:n.2330G>A (MKRN2) | ||
| ENST00000251849.8:c.1941C>T (RAF1) | ENSP00000251849.4:p.Val647= | |
| ENST00000423275.5:c.*1618C>T (RAF1) | ENSP00000401088.1:n.*1618C>T | |
| ENST00000432427.2:c.1578C>T (RAF1) | ENSP00000398591.2:p.Val526= | |
| ENST00000442415.6:c.2001C>T (RAF1) | ENSP00000401888.2:p.Val667= | |
| ENST00000471449.1:n.630C>T (RAF1) | ||
| NM_002880.3:c.1941C>T , LRG_413t1:c.1941C>T (RAF1) | NP_002871.1:p.Val647= | |
| XM_005265355.1:c.1941C>T (RAF1) | XP_005265412.1:p.Val647= | |
| XM_005265357.1:c.1842C>T (RAF1) | XP_005265414.1:p.Val614= | |
| XM_005265358.3:c.1698C>T (RAF1) | XP_005265415.1:p.Val566= | |
| XM_005265359.3:c.1599C>T (RAF1) | XP_005265416.1:p.Val533= | |
| XM_011533974.1:c.1941C>T (RAF1) | XP_011532276.1:p.Val647= | |
| XM_011533975.1:c.1698C>T (RAF1) | XP_011532277.1:p.Val566= | |
| NM_001354689.1:c.2001C>T (RAF1) | NP_001341618.1:p.Val667= | |
| NM_001354690.1:c.1941C>T (RAF1) | NP_001341619.1:p.Val647= | |
| NM_001354691.1:c.1698C>T (RAF1) | NP_001341620.1:p.Val566= | |
| NM_001354692.1:c.1698C>T (RAF1) | NP_001341621.1:p.Val566= | |
| NM_001354693.1:c.1842C>T (RAF1) | NP_001341622.1:p.Val614= | |
| NM_001354694.1:c.1758C>T (RAF1) | NP_001341623.1:p.Val586= | |
| NM_001354695.1:c.1599C>T (RAF1) | NP_001341624.1:p.Val533= | |
| NR_148940.1:n.2469C>T (RAF1) | ||
| NR_148941.1:n.2415C>T (RAF1) | ||
| NR_148942.1:n.2354C>T (RAF1) | ||
| XM_011533974.3:c.1941C>T (RAF1) | XP_011532276.1:p.Val647= | |
| XM_017006966.1:c.1842C>T (RAF1) | XP_016862455.1:p.Val614= | |
| NM_001354689.3:c.2001C>T (RAF1) | NP_001341618.1:p.Val667= | |
| NM_001354690.2:c.1941C>T (RAF1) | NP_001341619.1:p.Val647= | |
| NM_001354691.2:c.1698C>T (RAF1) | NP_001341620.1:p.Val566= | |
| NM_001354692.2:c.1698C>T (RAF1) | NP_001341621.1:p.Val566= | |
| NM_001354693.2:c.1842C>T (RAF1) | NP_001341622.1:p.Val614= | |
| NM_001354694.2:c.1758C>T (RAF1) | NP_001341623.1:p.Val586= | |
| NM_001354695.2:c.1599C>T (RAF1) | NP_001341624.1:p.Val533= | |
| NR_148940.2:n.2385C>T (RAF1) | ||
| NR_148941.2:n.2331C>T (RAF1) | ||
| NR_148942.2:n.2270C>T (RAF1) | ||
| NM_001354690.3:c.1941C>T (RAF1) | NP_001341619.1:p.Val647= | |
| NM_001354691.3:c.1698C>T (RAF1) | NP_001341620.1:p.Val566= | |
| NM_001354692.3:c.1698C>T (RAF1) | NP_001341621.1:p.Val566= | |
| NM_001354693.3:c.1842C>T (RAF1) | NP_001341622.1:p.Val614= | |
| NM_001354694.3:c.1758C>T (RAF1) | NP_001341623.1:p.Val586= | |
| NM_001354695.3:c.1599C>T (RAF1) | NP_001341624.1:p.Val533= | |
| NM_002880.4:c.1941C>T (RAF1) MANE Select | NP_002871.1:p.Val647= | |
| NR_148940.3:n.2385C>T (RAF1) | ||
| NR_148941.3:n.2331C>T (RAF1) | ||
| NR_148942.3:n.2270C>T (RAF1) |