Linked Data
ClinVar Variation Id:
1572430
ClinVar RCV Id:
RCV002219750
dbSNP Id:
rs1559398770
gnomAD v2:
3-12626349-G-A
gnomAD v3:
3-12584850-G-A
gnomAD v4:
3-12584850-G-A
MyVariant Identifiers:
chr3:g.12626349G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12584850G>A , CM000665.2:g.12584850G>A | GRCh38 |
| NC_000003.11:g.12626349G>A , CM000665.1:g.12626349G>A | GRCh37 |
| NC_000003.10:g.12601349G>A | NCBI36 |
| NG_007467.1:g.84330C>T , LRG_413:g.84330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*1465C>T (RAF1) | ENSP00000401088.1:n.*1465C>T | |
| ENST00000432427.3:c.1117C>T (RAF1) | ||
| ENST00000460610.2:n.6112C>T (RAF1) | ||
| ENST00000471449.2:n.610C>T (RAF1) | ||
| ENST00000475353.2:n.4080C>T (RAF1) | ||
| ENST00000684903.1:c.*1477C>T (RAF1) | ENSP00000508612.1:n.*1477C>T | |
| ENST00000685348.1:c.*1511C>T (RAF1) | ENSP00000510285.1:n.*1511C>T | |
| ENST00000685437.1:c.1701C>T (RAF1) | ENSP00000508794.1:p.Pro567= | |
| ENST00000685653.1:c.1800C>T (RAF1) | ENSP00000509968.1:p.Pro600= | |
| ENST00000685697.1:n.2535C>T (RAF1) | ||
| ENST00000685738.1:c.*764C>T (RAF1) | ENSP00000510156.1:n.*764C>T | |
| ENST00000686409.1:n.5209C>T (RAF1) | ||
| ENST00000686455.1:n.4521C>T (RAF1) | ||
| ENST00000686762.1:c.*359C>T (RAF1) | ENSP00000509767.1:n.*359C>T | |
| ENST00000687257.1:n.4254C>T (RAF1) | ||
| ENST00000687326.1:c.*3092C>T (RAF1) | ENSP00000509665.1:n.*3092C>T | |
| ENST00000687505.1:n.1918C>T (RAF1) | ||
| ENST00000687923.1:c.1689C>T (RAF1) | ENSP00000510255.1:p.Pro563= | |
| ENST00000688269.1:n.2396C>T (RAF1) | ||
| ENST00000688444.1:n.3917C>T (RAF1) | ||
| ENST00000688543.1:c.1701C>T (RAF1) | ENSP00000509612.1:p.Pro567= | |
| ENST00000688625.1:c.*3169C>T (RAF1) | ENSP00000509522.1:n.*3169C>T | |
| ENST00000688803.1:n.3228C>T (RAF1) | ||
| ENST00000689097.1:c.*1477C>T (RAF1) | ENSP00000509756.1:n.*1477C>T | |
| ENST00000689389.1:c.1623C>T (RAF1) | ENSP00000510213.1:p.Pro541= | |
| ENST00000689418.1:c.*3695C>T (RAF1) | ENSP00000509467.1:n.*3695C>T | |
| ENST00000689540.1:n.4168C>T (RAF1) | ||
| ENST00000689876.1:c.*349C>T (RAF1) | ENSP00000508535.1:n.*349C>T | |
| ENST00000689914.1:c.*734C>T (RAF1) | ENSP00000509847.1:n.*734C>T | |
| ENST00000690397.1:c.1689C>T (RAF1) | ENSP00000508730.1:p.Pro563= | |
| ENST00000690460.1:c.1788C>T (RAF1) | ENSP00000509106.1:p.Pro596= | |
| ENST00000690585.1:c.526C>T (RAF1) | ||
| ENST00000690625.1:n.2836C>T (RAF1) | ||
| ENST00000691396.1:c.*1672C>T (RAF1) | ENSP00000510712.1:n.*1672C>T | |
| ENST00000691643.1:n.2853C>T (RAF1) | ||
| ENST00000691724.1:c.*757C>T (RAF1) | ENSP00000509255.1:n.*757C>T | |
| ENST00000691779.1:c.*1378C>T (RAF1) | ENSP00000508592.1:n.*1378C>T | |
| ENST00000691888.1:c.674C>T (RAF1) | ||
| ENST00000691899.1:c.1800C>T (RAF1) | ENSP00000508763.1:p.Pro600= | |
| ENST00000692069.1:n.4724C>T (RAF1) | ||
| ENST00000692093.1:c.1701C>T (RAF1) | ENSP00000509669.1:p.Pro567= | |
| ENST00000692311.1:n.2624C>T (RAF1) | ||
| ENST00000692558.1:n.4383C>T (RAF1) | ||
| ENST00000692773.1:c.*1537C>T (RAF1) | ENSP00000509055.1:n.*1537C>T | |
| ENST00000692830.1:c.*1545C>T (RAF1) | ENSP00000509461.1:n.*1545C>T | |
| ENST00000693312.1:c.1575C>T (RAF1) | ENSP00000508686.1:p.Pro525= | |
| ENST00000693664.1:c.*251C>T (RAF1) | ENSP00000509614.1:n.*251C>T | |
| ENST00000693705.1:c.*1179C>T (RAF1) | ENSP00000510697.1:n.*1179C>T | |
| ENST00000251849.9:c.1800C>T (RAF1) MANE Select | ENSP00000251849.4:p.Pro600= | |
| ENST00000442415.7:c.1860C>T (RAF1) | ENSP00000401888.2:p.Pro620= | |
| ENST00000676541.1:c.*2597G>A (MKRN2) | ENSP00000503730.1:n.*2597G>A | |
| ENST00000677142.1:c.*2597G>A (MKRN2) | ENSP00000504455.1:n.*2597G>A | |
| ENST00000677816.1:c.*1152G>A (MKRN2) | ENSP00000502893.1:n.*1152G>A | |
| ENST00000677941.1:n.2660G>A (MKRN2) | ||
| ENST00000251849.8:c.1800C>T (RAF1) | ENSP00000251849.4:p.Pro600= | |
| ENST00000423275.5:c.*1477C>T (RAF1) | ENSP00000401088.1:n.*1477C>T | |
| ENST00000432427.2:c.1437C>T (RAF1) | ENSP00000398591.2:p.Pro479= | |
| ENST00000442415.6:c.1860C>T (RAF1) | ENSP00000401888.2:p.Pro620= | |
| ENST00000471449.1:n.489C>T (RAF1) | ||
| NM_002880.3:c.1800C>T , LRG_413t1:c.1800C>T (RAF1) | NP_002871.1:p.Pro600= | |
| XM_005265355.1:c.1800C>T (RAF1) | XP_005265412.1:p.Pro600= | |
| XM_005265357.1:c.1701C>T (RAF1) | XP_005265414.1:p.Pro567= | |
| XM_005265358.3:c.1557C>T (RAF1) | XP_005265415.1:p.Pro519= | |
| XM_005265359.3:c.1458C>T (RAF1) | XP_005265416.1:p.Pro486= | |
| XM_011533974.1:c.1800C>T (RAF1) | XP_011532276.1:p.Pro600= | |
| XM_011533975.1:c.1557C>T (RAF1) | XP_011532277.1:p.Pro519= | |
| NM_001354689.1:c.1860C>T (RAF1) | NP_001341618.1:p.Pro620= | |
| NM_001354690.1:c.1800C>T (RAF1) | NP_001341619.1:p.Pro600= | |
| NM_001354691.1:c.1557C>T (RAF1) | NP_001341620.1:p.Pro519= | |
| NM_001354692.1:c.1557C>T (RAF1) | NP_001341621.1:p.Pro519= | |
| NM_001354693.1:c.1701C>T (RAF1) | NP_001341622.1:p.Pro567= | |
| NM_001354694.1:c.1617C>T (RAF1) | NP_001341623.1:p.Pro539= | |
| NM_001354695.1:c.1458C>T (RAF1) | NP_001341624.1:p.Pro486= | |
| NR_148940.1:n.2328C>T (RAF1) | ||
| NR_148941.1:n.2274C>T (RAF1) | ||
| NR_148942.1:n.2213C>T (RAF1) | ||
| XM_011533974.3:c.1800C>T (RAF1) | XP_011532276.1:p.Pro600= | |
| XM_017006966.1:c.1701C>T (RAF1) | XP_016862455.1:p.Pro567= | |
| NM_001354689.3:c.1860C>T (RAF1) | NP_001341618.1:p.Pro620= | |
| NM_001354690.2:c.1800C>T (RAF1) | NP_001341619.1:p.Pro600= | |
| NM_001354691.2:c.1557C>T (RAF1) | NP_001341620.1:p.Pro519= | |
| NM_001354692.2:c.1557C>T (RAF1) | NP_001341621.1:p.Pro519= | |
| NM_001354693.2:c.1701C>T (RAF1) | NP_001341622.1:p.Pro567= | |
| NM_001354694.2:c.1617C>T (RAF1) | NP_001341623.1:p.Pro539= | |
| NM_001354695.2:c.1458C>T (RAF1) | NP_001341624.1:p.Pro486= | |
| NR_148940.2:n.2244C>T (RAF1) | ||
| NR_148941.2:n.2190C>T (RAF1) | ||
| NR_148942.2:n.2129C>T (RAF1) | ||
| NM_001354690.3:c.1800C>T (RAF1) | NP_001341619.1:p.Pro600= | |
| NM_001354691.3:c.1557C>T (RAF1) | NP_001341620.1:p.Pro519= | |
| NM_001354692.3:c.1557C>T (RAF1) | NP_001341621.1:p.Pro519= | |
| NM_001354693.3:c.1701C>T (RAF1) | NP_001341622.1:p.Pro567= | |
| NM_001354694.3:c.1617C>T (RAF1) | NP_001341623.1:p.Pro539= | |
| NM_001354695.3:c.1458C>T (RAF1) | NP_001341624.1:p.Pro486= | |
| NM_002880.4:c.1800C>T (RAF1) MANE Select | NP_002871.1:p.Pro600= | |
| NR_148940.3:n.2244C>T (RAF1) | ||
| NR_148941.3:n.2190C>T (RAF1) | ||
| NR_148942.3:n.2129C>T (RAF1) |