Canonical Allele Identifier: CA351496646

Linked Data

gnomAD v4: 3-12584891-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12584891C>A , CM000665.2:g.12584891C>A GRCh38
NC_000003.11:g.12626390C>A , CM000665.1:g.12626390C>A GRCh37
NC_000003.10:g.12601390C>A NCBI36
NG_007467.1:g.84289G>T , LRG_413:g.84289G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1424G>T (RAF1) ENSP00000401088.1:n.*1424G>T
ENST00000432427.3:c.1076G>T (RAF1)
ENST00000460610.2:n.6071G>T (RAF1)
ENST00000471449.2:n.569G>T (RAF1)
ENST00000475353.2:n.4039G>T (RAF1)
ENST00000684903.1:c.*1436G>T (RAF1) ENSP00000508612.1:n.*1436G>T
ENST00000685348.1:c.*1470G>T (RAF1) ENSP00000510285.1:n.*1470G>T
ENST00000685437.1:c.1660G>T (RAF1) ENSP00000508794.1:p.Asp554Tyr
ENST00000685653.1:c.1759G>T (RAF1) ENSP00000509968.1:p.Asp587Tyr
ENST00000685697.1:n.2494G>T (RAF1)
ENST00000685738.1:c.*723G>T (RAF1) ENSP00000510156.1:n.*723G>T
ENST00000686409.1:n.5168G>T (RAF1)
ENST00000686455.1:n.4480G>T (RAF1)
ENST00000686762.1:c.*318G>T (RAF1) ENSP00000509767.1:n.*318G>T
ENST00000687257.1:n.4213G>T (RAF1)
ENST00000687326.1:c.*3051G>T (RAF1) ENSP00000509665.1:n.*3051G>T
ENST00000687505.1:n.1877G>T (RAF1)
ENST00000687923.1:c.1648G>T (RAF1) ENSP00000510255.1:p.Asp550Tyr
ENST00000688269.1:n.2355G>T (RAF1)
ENST00000688444.1:n.3876G>T (RAF1)
ENST00000688543.1:c.1660G>T (RAF1) ENSP00000509612.1:p.Asp554Tyr
ENST00000688625.1:c.*3128G>T (RAF1) ENSP00000509522.1:n.*3128G>T
ENST00000688803.1:n.3187G>T (RAF1)
ENST00000688914.1:n.1172G>T (RAF1)
ENST00000689097.1:c.*1436G>T (RAF1) ENSP00000509756.1:n.*1436G>T
ENST00000689389.1:c.1582G>T (RAF1) ENSP00000510213.1:p.Asp528Tyr
ENST00000689418.1:c.*3654G>T (RAF1) ENSP00000509467.1:n.*3654G>T
ENST00000689540.1:n.4127G>T (RAF1)
ENST00000689876.1:c.*308G>T (RAF1) ENSP00000508535.1:n.*308G>T
ENST00000689914.1:c.*693G>T (RAF1) ENSP00000509847.1:n.*693G>T
ENST00000690397.1:c.1648G>T (RAF1) ENSP00000508730.1:p.Asp550Tyr
ENST00000690460.1:c.1747G>T (RAF1) ENSP00000509106.1:p.Asp583Tyr
ENST00000690585.1:c.485G>T (RAF1)
ENST00000690625.1:n.2795G>T (RAF1)
ENST00000691396.1:c.*1631G>T (RAF1) ENSP00000510712.1:n.*1631G>T
ENST00000691643.1:n.2812G>T (RAF1)
ENST00000691724.1:c.*716G>T (RAF1) ENSP00000509255.1:n.*716G>T
ENST00000691779.1:c.*1337G>T (RAF1) ENSP00000508592.1:n.*1337G>T
ENST00000691888.1:c.633G>T (RAF1)
ENST00000691899.1:c.1759G>T (RAF1) ENSP00000508763.1:p.Asp587Tyr
ENST00000692069.1:n.4683G>T (RAF1)
ENST00000692093.1:c.1660G>T (RAF1) ENSP00000509669.1:p.Asp554Tyr
ENST00000692311.1:n.2583G>T (RAF1)
ENST00000692558.1:n.4342G>T (RAF1)
ENST00000692773.1:c.*1496G>T (RAF1) ENSP00000509055.1:n.*1496G>T
ENST00000692830.1:c.*1504G>T (RAF1) ENSP00000509461.1:n.*1504G>T
ENST00000693312.1:c.1534G>T (RAF1) ENSP00000508686.1:p.Asp512Tyr
ENST00000693664.1:c.*210G>T (RAF1) ENSP00000509614.1:n.*210G>T
ENST00000693705.1:c.*1138G>T (RAF1) ENSP00000510697.1:n.*1138G>T
ENST00000251849.9:c.1759G>T (RAF1) MANE Select ENSP00000251849.4:p.Asp587Tyr
ENST00000442415.7:c.1819G>T (RAF1) ENSP00000401888.2:p.Asp607Tyr
ENST00000676541.1:c.*2638C>A (MKRN2) ENSP00000503730.1:n.*2638C>A
ENST00000677142.1:c.*2638C>A (MKRN2) ENSP00000504455.1:n.*2638C>A
ENST00000677816.1:c.*1193C>A (MKRN2) ENSP00000502893.1:n.*1193C>A
ENST00000677941.1:n.2701C>A (MKRN2)
ENST00000251849.8:c.1759G>T (RAF1) ENSP00000251849.4:p.Asp587Tyr
ENST00000423275.5:c.*1436G>T (RAF1) ENSP00000401088.1:n.*1436G>T
ENST00000432427.2:c.1396G>T (RAF1) ENSP00000398591.2:p.Asp466Tyr
ENST00000442415.6:c.1819G>T (RAF1) ENSP00000401888.2:p.Asp607Tyr
ENST00000471449.1:n.448G>T (RAF1)
NM_002880.3:c.1759G>T , LRG_413t1:c.1759G>T (RAF1) NP_002871.1:p.Asp587Tyr
XM_005265355.1:c.1759G>T (RAF1) XP_005265412.1:p.Asp587Tyr
XM_005265357.1:c.1660G>T (RAF1) XP_005265414.1:p.Asp554Tyr
XM_005265358.3:c.1516G>T (RAF1) XP_005265415.1:p.Asp506Tyr
XM_005265359.3:c.1417G>T (RAF1) XP_005265416.1:p.Asp473Tyr
XM_011533974.1:c.1759G>T (RAF1) XP_011532276.1:p.Asp587Tyr
XM_011533975.1:c.1516G>T (RAF1) XP_011532277.1:p.Asp506Tyr
NM_001354689.1:c.1819G>T (RAF1) NP_001341618.1:p.Asp607Tyr
NM_001354690.1:c.1759G>T (RAF1) NP_001341619.1:p.Asp587Tyr
NM_001354691.1:c.1516G>T (RAF1) NP_001341620.1:p.Asp506Tyr
NM_001354692.1:c.1516G>T (RAF1) NP_001341621.1:p.Asp506Tyr
NM_001354693.1:c.1660G>T (RAF1) NP_001341622.1:p.Asp554Tyr
NM_001354694.1:c.1576G>T (RAF1) NP_001341623.1:p.Asp526Tyr
NM_001354695.1:c.1417G>T (RAF1) NP_001341624.1:p.Asp473Tyr
NR_148940.1:n.2287G>T (RAF1)
NR_148941.1:n.2233G>T (RAF1)
NR_148942.1:n.2172G>T (RAF1)
XM_011533974.3:c.1759G>T (RAF1) XP_011532276.1:p.Asp587Tyr
XM_017006966.1:c.1660G>T (RAF1) XP_016862455.1:p.Asp554Tyr
NM_001354689.3:c.1819G>T (RAF1) NP_001341618.1:p.Asp607Tyr
NM_001354690.2:c.1759G>T (RAF1) NP_001341619.1:p.Asp587Tyr
NM_001354691.2:c.1516G>T (RAF1) NP_001341620.1:p.Asp506Tyr
NM_001354692.2:c.1516G>T (RAF1) NP_001341621.1:p.Asp506Tyr
NM_001354693.2:c.1660G>T (RAF1) NP_001341622.1:p.Asp554Tyr
NM_001354694.2:c.1576G>T (RAF1) NP_001341623.1:p.Asp526Tyr
NM_001354695.2:c.1417G>T (RAF1) NP_001341624.1:p.Asp473Tyr
NR_148940.2:n.2203G>T (RAF1)
NR_148941.2:n.2149G>T (RAF1)
NR_148942.2:n.2088G>T (RAF1)
NM_001354690.3:c.1759G>T (RAF1) NP_001341619.1:p.Asp587Tyr
NM_001354691.3:c.1516G>T (RAF1) NP_001341620.1:p.Asp506Tyr
NM_001354692.3:c.1516G>T (RAF1) NP_001341621.1:p.Asp506Tyr
NM_001354693.3:c.1660G>T (RAF1) NP_001341622.1:p.Asp554Tyr
NM_001354694.3:c.1576G>T (RAF1) NP_001341623.1:p.Asp526Tyr
NM_001354695.3:c.1417G>T (RAF1) NP_001341624.1:p.Asp473Tyr
NM_002880.4:c.1759G>T (RAF1) MANE Select NP_002871.1:p.Asp587Tyr
NR_148940.3:n.2203G>T (RAF1)
NR_148941.3:n.2149G>T (RAF1)
NR_148942.3:n.2088G>T (RAF1)