Canonical Allele Identifier: CA2664506895

Linked Data

gnomAD v4: 3-12584839-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584839A>C , CM000665.2:g.12584839A>C GRCh38
NC_000003.11:g.12626338A>C , CM000665.1:g.12626338A>C GRCh37
NC_000003.10:g.12601338A>C NCBI36
NG_007467.1:g.84341T>G , LRG_413:g.84341T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1468+8T>G (RAF1) ENSP00000401088.1:n.*1468+8T>G
ENST00000432427.3:c.1120+8T>G (RAF1)
ENST00000460610.2:n.6115+8T>G (RAF1)
ENST00000471449.2:n.613+8T>G (RAF1)
ENST00000475353.2:n.4083+8T>G (RAF1)
ENST00000684903.1:c.*1480+8T>G (RAF1) ENSP00000508612.1:n.*1480+8T>G
ENST00000685348.1:c.*1514+8T>G (RAF1) ENSP00000510285.1:n.*1514+8T>G
ENST00000685437.1:c.1704+8T>G (RAF1) ENSP00000508794.1:n.1704+8T>G
ENST00000685653.1:c.1803+8T>G (RAF1) ENSP00000509968.1:n.1803+8T>G
ENST00000685697.1:n.2538+8T>G (RAF1)
ENST00000685738.1:c.*767+8T>G (RAF1) ENSP00000510156.1:n.*767+8T>G
ENST00000686409.1:n.5212+8T>G (RAF1)
ENST00000686455.1:n.4524+8T>G (RAF1)
ENST00000686762.1:c.*362+8T>G (RAF1) ENSP00000509767.1:n.*362+8T>G
ENST00000687257.1:n.4257+8T>G (RAF1)
ENST00000687326.1:c.*3095+8T>G (RAF1) ENSP00000509665.1:n.*3095+8T>G
ENST00000687505.1:n.1921+8T>G (RAF1)
ENST00000687923.1:c.1692+8T>G (RAF1) ENSP00000510255.1:n.1692+8T>G
ENST00000688269.1:n.2399+8T>G (RAF1)
ENST00000688444.1:n.3920+8T>G (RAF1)
ENST00000688543.1:c.1704+8T>G (RAF1) ENSP00000509612.1:n.1704+8T>G
ENST00000688625.1:c.*3172+8T>G (RAF1) ENSP00000509522.1:n.*3172+8T>G
ENST00000688803.1:n.3231+8T>G (RAF1)
ENST00000689097.1:c.*1480+8T>G (RAF1) ENSP00000509756.1:n.*1480+8T>G
ENST00000689389.1:c.1626+8T>G (RAF1) ENSP00000510213.1:n.1626+8T>G
ENST00000689418.1:c.*3698+8T>G (RAF1) ENSP00000509467.1:n.*3698+8T>G
ENST00000689540.1:n.4171+8T>G (RAF1)
ENST00000689876.1:c.*352+8T>G (RAF1) ENSP00000508535.1:n.*352+8T>G
ENST00000689914.1:c.*737+8T>G (RAF1) ENSP00000509847.1:n.*737+8T>G
ENST00000690397.1:c.1692+8T>G (RAF1) ENSP00000508730.1:n.1692+8T>G
ENST00000690460.1:c.1791+8T>G (RAF1) ENSP00000509106.1:n.1791+8T>G
ENST00000690585.1:c.529+8T>G (RAF1)
ENST00000690625.1:n.2839+8T>G (RAF1)
ENST00000691396.1:c.*1675+8T>G (RAF1) ENSP00000510712.1:n.*1675+8T>G
ENST00000691643.1:n.2856+8T>G (RAF1)
ENST00000691724.1:c.*760+8T>G (RAF1) ENSP00000509255.1:n.*760+8T>G
ENST00000691779.1:c.*1381+8T>G (RAF1) ENSP00000508592.1:n.*1381+8T>G
ENST00000691888.1:c.677+8T>G (RAF1)
ENST00000691899.1:c.1803+8T>G (RAF1) ENSP00000508763.1:n.1803+8T>G
ENST00000692069.1:n.4727+8T>G (RAF1)
ENST00000692093.1:c.1704+8T>G (RAF1) ENSP00000509669.1:n.1704+8T>G
ENST00000692311.1:n.2627+8T>G (RAF1)
ENST00000692558.1:n.4386+8T>G (RAF1)
ENST00000692773.1:c.*1540+8T>G (RAF1) ENSP00000509055.1:n.*1540+8T>G
ENST00000692830.1:c.*1548+8T>G (RAF1) ENSP00000509461.1:n.*1548+8T>G
ENST00000693312.1:c.1578+8T>G (RAF1) ENSP00000508686.1:n.1578+8T>G
ENST00000693664.1:c.*254+8T>G (RAF1) ENSP00000509614.1:n.*254+8T>G
ENST00000693705.1:c.*1182+8T>G (RAF1) ENSP00000510697.1:n.*1182+8T>G
ENST00000251849.9:c.1803+8T>G (RAF1) MANE Select ENSP00000251849.4:n.1803+8T>G
ENST00000442415.7:c.1863+8T>G (RAF1) ENSP00000401888.2:n.1863+8T>G
ENST00000676541.1:c.*2586A>C (MKRN2) ENSP00000503730.1:n.*2586A>C
ENST00000677142.1:c.*2586A>C (MKRN2) ENSP00000504455.1:n.*2586A>C
ENST00000677816.1:c.*1141A>C (MKRN2) ENSP00000502893.1:n.*1141A>C
ENST00000677941.1:n.2649A>C (MKRN2)
ENST00000251849.8:c.1803+8T>G (RAF1) ENSP00000251849.4:n.1803+8T>G
ENST00000423275.5:c.*1480+8T>G (RAF1) ENSP00000401088.1:n.*1480+8T>G
ENST00000432427.2:c.1440+8T>G (RAF1) ENSP00000398591.2:n.1440+8T>G
ENST00000442415.6:c.1863+8T>G (RAF1) ENSP00000401888.2:n.1863+8T>G
ENST00000471449.1:n.492+8T>G (RAF1)
NM_002880.3:c.1803+8T>G , LRG_413t1:c.1803+8T>G (RAF1) NP_002871.1:n.1803+8T>G
XM_005265355.1:c.1803+8T>G (RAF1) XP_005265412.1:n.1803+8T>G
XM_005265357.1:c.1704+8T>G (RAF1) XP_005265414.1:n.1704+8T>G
XM_005265358.3:c.1560+8T>G (RAF1) XP_005265415.1:n.1560+8T>G
XM_005265359.3:c.1461+8T>G (RAF1) XP_005265416.1:n.1461+8T>G
XM_011533974.1:c.1803+8T>G (RAF1) XP_011532276.1:n.1803+8T>G
XM_011533975.1:c.1560+8T>G (RAF1) XP_011532277.1:n.1560+8T>G
NM_001354689.1:c.1863+8T>G (RAF1) NP_001341618.1:n.1863+8T>G
NM_001354690.1:c.1803+8T>G (RAF1) NP_001341619.1:n.1803+8T>G
NM_001354691.1:c.1560+8T>G (RAF1) NP_001341620.1:n.1560+8T>G
NM_001354692.1:c.1560+8T>G (RAF1) NP_001341621.1:n.1560+8T>G
NM_001354693.1:c.1704+8T>G (RAF1) NP_001341622.1:n.1704+8T>G
NM_001354694.1:c.1620+8T>G (RAF1) NP_001341623.1:n.1620+8T>G
NM_001354695.1:c.1461+8T>G (RAF1) NP_001341624.1:n.1461+8T>G
NR_148940.1:n.2331+8T>G (RAF1)
NR_148941.1:n.2277+8T>G (RAF1)
NR_148942.1:n.2216+8T>G (RAF1)
XM_011533974.3:c.1803+8T>G (RAF1) XP_011532276.1:n.1803+8T>G
XM_017006966.1:c.1704+8T>G (RAF1) XP_016862455.1:n.1704+8T>G
NM_001354689.3:c.1863+8T>G (RAF1) NP_001341618.1:n.1863+8T>G
NM_001354690.2:c.1803+8T>G (RAF1) NP_001341619.1:n.1803+8T>G
NM_001354691.2:c.1560+8T>G (RAF1) NP_001341620.1:n.1560+8T>G
NM_001354692.2:c.1560+8T>G (RAF1) NP_001341621.1:n.1560+8T>G
NM_001354693.2:c.1704+8T>G (RAF1) NP_001341622.1:n.1704+8T>G
NM_001354694.2:c.1620+8T>G (RAF1) NP_001341623.1:n.1620+8T>G
NM_001354695.2:c.1461+8T>G (RAF1) NP_001341624.1:n.1461+8T>G
NR_148940.2:n.2247+8T>G (RAF1)
NR_148941.2:n.2193+8T>G (RAF1)
NR_148942.2:n.2132+8T>G (RAF1)
NM_001354690.3:c.1803+8T>G (RAF1) NP_001341619.1:n.1803+8T>G
NM_001354691.3:c.1560+8T>G (RAF1) NP_001341620.1:n.1560+8T>G
NM_001354692.3:c.1560+8T>G (RAF1) NP_001341621.1:n.1560+8T>G
NM_001354693.3:c.1704+8T>G (RAF1) NP_001341622.1:n.1704+8T>G
NM_001354694.3:c.1620+8T>G (RAF1) NP_001341623.1:n.1620+8T>G
NM_001354695.3:c.1461+8T>G (RAF1) NP_001341624.1:n.1461+8T>G
NM_002880.4:c.1803+8T>G (RAF1) MANE Select NP_002871.1:n.1803+8T>G
NR_148940.3:n.2247+8T>G (RAF1)
NR_148941.3:n.2193+8T>G (RAF1)
NR_148942.3:n.2132+8T>G (RAF1)