Canonical Allele Identifier: CA351499134
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12585755C>A , CM000665.2:g.12585755C>A GRCh38
NC_000003.11:g.12627254C>A , CM000665.1:g.12627254C>A GRCh37
NC_000003.10:g.12602254C>A NCBI36
NG_007467.1:g.83425G>T , LRG_413:g.83425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000423275.6:c.*1127G>T (RAF1) ENSP00000401088.1:n.*1127G>T
ENST00000432427.3:c.779G>T (RAF1)
ENST00000460610.2:n.5207G>T (RAF1)
ENST00000471449.2:n.272G>T (RAF1)
ENST00000475353.2:n.3175G>T (RAF1)
ENST00000684903.1:c.*1139G>T (RAF1) ENSP00000508612.1:n.*1139G>T
ENST00000685348.1:c.*1095-349G>T (RAF1) ENSP00000510285.1:n.*1095-349G>T
ENST00000685437.1:c.1363G>T (RAF1) ENSP00000508794.1:p.Gly455Cys
ENST00000685653.1:c.1462G>T (RAF1) ENSP00000509968.1:p.Gly488Cys
ENST00000685697.1:n.2197G>T (RAF1)
ENST00000685738.1:c.*426G>T (RAF1) ENSP00000510156.1:n.*426G>T
ENST00000686409.1:n.4304G>T (RAF1)
ENST00000686455.1:n.3616G>T (RAF1)
ENST00000686762.1:c.*21G>T (RAF1) ENSP00000509767.1:n.*21G>T
ENST00000687257.1:n.3489G>T (RAF1)
ENST00000687326.1:c.*2187G>T (RAF1) ENSP00000509665.1:n.*2187G>T
ENST00000687505.1:n.1580G>T (RAF1)
ENST00000687923.1:c.1351G>T (RAF1) ENSP00000510255.1:p.Gly451Cys
ENST00000688269.1:n.2058G>T (RAF1)
ENST00000688444.1:n.3579G>T (RAF1)
ENST00000688543.1:c.1363G>T (RAF1) ENSP00000509612.1:p.Gly455Cys
ENST00000688625.1:c.*2831G>T (RAF1) ENSP00000509522.1:n.*2831G>T
ENST00000688803.1:n.2965-502G>T (RAF1)
ENST00000688914.1:n.448G>T (RAF1)
ENST00000689097.1:c.*1139G>T (RAF1) ENSP00000509756.1:n.*1139G>T
ENST00000689389.1:c.1285G>T (RAF1) ENSP00000510213.1:p.Gly429Cys
ENST00000689418.1:c.*2930G>T (RAF1) ENSP00000509467.1:n.*2930G>T
ENST00000689540.1:n.3403G>T (RAF1)
ENST00000689876.1:c.1418-349G>T (RAF1) ENSP00000508535.1:n.1418-349G>T
ENST00000689914.1:c.*396G>T (RAF1) ENSP00000509847.1:n.*396G>T
ENST00000690397.1:c.1351G>T (RAF1) ENSP00000508730.1:p.Gly451Cys
ENST00000690460.1:c.1450G>T (RAF1) ENSP00000509106.1:p.Gly484Cys
ENST00000690585.1:c.263-502G>T (RAF1)
ENST00000690625.1:n.2498G>T (RAF1)
ENST00000691396.1:c.*1334G>T (RAF1) ENSP00000510712.1:n.*1334G>T
ENST00000691643.1:n.2088G>T (RAF1)
ENST00000691724.1:c.*419G>T (RAF1) ENSP00000509255.1:n.*419G>T
ENST00000691779.1:c.*1040G>T (RAF1) ENSP00000508592.1:n.*1040G>T
ENST00000691888.1:c.336G>T (RAF1)
ENST00000691899.1:c.1462G>T (RAF1) ENSP00000508763.1:p.Gly488Cys
ENST00000692069.1:n.3819G>T (RAF1)
ENST00000692093.1:c.1363G>T (RAF1) ENSP00000509669.1:p.Gly455Cys
ENST00000692311.1:n.2286G>T (RAF1)
ENST00000692558.1:n.3618G>T (RAF1)
ENST00000692773.1:c.*1199G>T (RAF1) ENSP00000509055.1:n.*1199G>T
ENST00000692830.1:c.*1207G>T (RAF1) ENSP00000509461.1:n.*1207G>T
ENST00000693312.1:c.1237G>T (RAF1) ENSP00000508686.1:p.Gly413Cys
ENST00000693664.1:c.1488-502G>T (RAF1) ENSP00000509614.1:n.1488-502G>T
ENST00000693705.1:c.*1048-774G>T (RAF1) ENSP00000510697.1:n.*1048-774G>T
ENST00000251849.9:c.1462G>T (RAF1) MANE Select ENSP00000251849.4:p.Gly488Cys
ENST00000442415.7:c.1522G>T (RAF1) ENSP00000401888.2:p.Gly508Cys
ENST00000676541.1:c.*3502C>A (MKRN2) ENSP00000503730.1:n.*3502C>A
ENST00000677142.1:c.*3502C>A (MKRN2) ENSP00000504455.1:n.*3502C>A
ENST00000677816.1:c.*2057C>A (MKRN2) ENSP00000502893.1:n.*2057C>A
ENST00000677941.1:n.3565C>A (MKRN2)
ENST00000251849.8:c.1462G>T (RAF1) ENSP00000251849.4:p.Gly488Cys
ENST00000423275.5:c.*1139G>T (RAF1) ENSP00000401088.1:n.*1139G>T
ENST00000432427.2:c.1099G>T (RAF1) ENSP00000398591.2:p.Gly367Cys
ENST00000442415.6:c.1522G>T (RAF1) ENSP00000401888.2:p.Gly508Cys
ENST00000471449.1:n.151G>T (RAF1)
NM_002880.3:c.1462G>T , LRG_413t1:c.1462G>T (RAF1) NP_002871.1:p.Gly488Cys
XM_005265355.1:c.1462G>T (RAF1) XP_005265412.1:p.Gly488Cys
XM_005265357.1:c.1363G>T (RAF1) XP_005265414.1:p.Gly455Cys
XM_005265358.3:c.1219G>T (RAF1) XP_005265415.1:p.Gly407Cys
XM_005265359.3:c.1120G>T (RAF1) XP_005265416.1:p.Gly374Cys
XM_005265360.1:c.1418-349G>T (RAF1) XP_005265417.1:n.1418-349G>T
XM_011533974.1:c.1462G>T (RAF1) XP_011532276.1:p.Gly488Cys
XM_011533975.1:c.1219G>T (RAF1) XP_011532277.1:p.Gly407Cys
NM_001354689.1:c.1522G>T (RAF1) NP_001341618.1:p.Gly508Cys
NM_001354690.1:c.1462G>T (RAF1) NP_001341619.1:p.Gly488Cys
NM_001354691.1:c.1219G>T (RAF1) NP_001341620.1:p.Gly407Cys
NM_001354692.1:c.1219G>T (RAF1) NP_001341621.1:p.Gly407Cys
NM_001354693.1:c.1363G>T (RAF1) NP_001341622.1:p.Gly455Cys
NM_001354694.1:c.1279G>T (RAF1) NP_001341623.1:p.Gly427Cys
NM_001354695.1:c.1120G>T (RAF1) NP_001341624.1:p.Gly374Cys
NR_148940.1:n.1990G>T (RAF1)
NR_148941.1:n.1936G>T (RAF1)
NR_148942.1:n.1875G>T (RAF1)
XM_011533974.3:c.1462G>T (RAF1) XP_011532276.1:p.Gly488Cys
XM_017006966.1:c.1363G>T (RAF1) XP_016862455.1:p.Gly455Cys
NM_001354689.3:c.1522G>T (RAF1) NP_001341618.1:p.Gly508Cys
NM_001354690.2:c.1462G>T (RAF1) NP_001341619.1:p.Gly488Cys
NM_001354691.2:c.1219G>T (RAF1) NP_001341620.1:p.Gly407Cys
NM_001354692.2:c.1219G>T (RAF1) NP_001341621.1:p.Gly407Cys
NM_001354693.2:c.1363G>T (RAF1) NP_001341622.1:p.Gly455Cys
NM_001354694.2:c.1279G>T (RAF1) NP_001341623.1:p.Gly427Cys
NM_001354695.2:c.1120G>T (RAF1) NP_001341624.1:p.Gly374Cys
NR_148940.2:n.1906G>T (RAF1)
NR_148941.2:n.1852G>T (RAF1)
NR_148942.2:n.1791G>T (RAF1)
NM_001354690.3:c.1462G>T (RAF1) NP_001341619.1:p.Gly488Cys
NM_001354691.3:c.1219G>T (RAF1) NP_001341620.1:p.Gly407Cys
NM_001354692.3:c.1219G>T (RAF1) NP_001341621.1:p.Gly407Cys
NM_001354693.3:c.1363G>T (RAF1) NP_001341622.1:p.Gly455Cys
NM_001354694.3:c.1279G>T (RAF1) NP_001341623.1:p.Gly427Cys
NM_001354695.3:c.1120G>T (RAF1) NP_001341624.1:p.Gly374Cys
NM_002880.4:c.1462G>T (RAF1) MANE Select NP_002871.1:p.Gly488Cys
NR_148940.3:n.1906G>T (RAF1)
NR_148941.3:n.1852G>T (RAF1)
NR_148942.3:n.1791G>T (RAF1)