Canonical Allele Identifier: CA351499206

Gene: RAF1 MKRN2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585773C>G , CM000665.2:g.12585773C>G	GRCh38
NC_000003.11:g.12627272C>G , CM000665.1:g.12627272C>G	GRCh37
NC_000003.10:g.12602272C>G	NCBI36
NG_007467.1:g.83407G>C , LRG_413:g.83407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1109G>C (RAF1)	ENSP00000401088.1:n.*1109G>C
ENST00000432427.3:c.761G>C (RAF1)
ENST00000460610.2:n.5189G>C (RAF1)
ENST00000471449.2:n.254G>C (RAF1)
ENST00000475353.2:n.3157G>C (RAF1)
ENST00000684903.1:c.*1121G>C (RAF1)	ENSP00000508612.1:n.*1121G>C
ENST00000685348.1:c.*1095-367G>C (RAF1)	ENSP00000510285.1:n.*1095-367G>C
ENST00000685437.1:c.1345G>C (RAF1)	ENSP00000508794.1:p.Val449Leu
ENST00000685653.1:c.1444G>C (RAF1)	ENSP00000509968.1:p.Val482Leu
ENST00000685697.1:n.2179G>C (RAF1)
ENST00000685738.1:c.*408G>C (RAF1)	ENSP00000510156.1:n.*408G>C
ENST00000686409.1:n.4286G>C (RAF1)
ENST00000686455.1:n.3598G>C (RAF1)
ENST00000686762.1:c.*3G>C (RAF1)	ENSP00000509767.1:n.*3G>C
ENST00000687257.1:n.3471G>C (RAF1)
ENST00000687326.1:c.*2169G>C (RAF1)	ENSP00000509665.1:n.*2169G>C
ENST00000687505.1:n.1562G>C (RAF1)
ENST00000687923.1:c.1333G>C (RAF1)	ENSP00000510255.1:p.Val445Leu
ENST00000688269.1:n.2040G>C (RAF1)
ENST00000688444.1:n.3561G>C (RAF1)
ENST00000688543.1:c.1345G>C (RAF1)	ENSP00000509612.1:p.Val449Leu
ENST00000688625.1:c.*2813G>C (RAF1)	ENSP00000509522.1:n.*2813G>C
ENST00000688803.1:n.2964+502G>C (RAF1)
ENST00000688914.1:n.430G>C (RAF1)
ENST00000689097.1:c.*1121G>C (RAF1)	ENSP00000509756.1:n.*1121G>C
ENST00000689389.1:c.1267G>C (RAF1)	ENSP00000510213.1:p.Val423Leu
ENST00000689418.1:c.*2912G>C (RAF1)	ENSP00000509467.1:n.*2912G>C
ENST00000689540.1:n.3385G>C (RAF1)
ENST00000689876.1:c.1418-367G>C (RAF1)	ENSP00000508535.1:n.1418-367G>C
ENST00000689914.1:c.*378G>C (RAF1)	ENSP00000509847.1:n.*378G>C
ENST00000690397.1:c.1333G>C (RAF1)	ENSP00000508730.1:p.Val445Leu
ENST00000690460.1:c.1432G>C (RAF1)	ENSP00000509106.1:p.Val478Leu
ENST00000690585.1:c.263-520G>C (RAF1)
ENST00000690625.1:n.2480G>C (RAF1)
ENST00000691396.1:c.*1316G>C (RAF1)	ENSP00000510712.1:n.*1316G>C
ENST00000691643.1:n.2070G>C (RAF1)
ENST00000691724.1:c.*401G>C (RAF1)	ENSP00000509255.1:n.*401G>C
ENST00000691779.1:c.*1022G>C (RAF1)	ENSP00000508592.1:n.*1022G>C
ENST00000691888.1:c.318G>C (RAF1)
ENST00000691899.1:c.1444G>C (RAF1)	ENSP00000508763.1:p.Val482Leu
ENST00000692069.1:n.3801G>C (RAF1)
ENST00000692093.1:c.1345G>C (RAF1)	ENSP00000509669.1:p.Val449Leu
ENST00000692311.1:n.2268G>C (RAF1)
ENST00000692558.1:n.3600G>C (RAF1)
ENST00000692773.1:c.*1181G>C (RAF1)	ENSP00000509055.1:n.*1181G>C
ENST00000692830.1:c.*1189G>C (RAF1)	ENSP00000509461.1:n.*1189G>C
ENST00000693312.1:c.1219G>C (RAF1)	ENSP00000508686.1:p.Val407Leu
ENST00000693664.1:c.1487+502G>C (RAF1)	ENSP00000509614.1:n.1487+502G>C
ENST00000693705.1:c.*1048-792G>C (RAF1)	ENSP00000510697.1:n.*1048-792G>C
ENST00000251849.9:c.1444G>C (RAF1) MANE Select	ENSP00000251849.4:p.Val482Leu
ENST00000442415.7:c.1504G>C (RAF1)	ENSP00000401888.2:p.Val502Leu
ENST00000676541.1:c.*3520C>G (MKRN2)	ENSP00000503730.1:n.*3520C>G
ENST00000677142.1:c.*3520C>G (MKRN2)	ENSP00000504455.1:n.*3520C>G
ENST00000677816.1:c.*2075C>G (MKRN2)	ENSP00000502893.1:n.*2075C>G
ENST00000677941.1:n.3583C>G (MKRN2)
ENST00000251849.8:c.1444G>C (RAF1)	ENSP00000251849.4:p.Val482Leu
ENST00000423275.5:c.*1121G>C (RAF1)	ENSP00000401088.1:n.*1121G>C
ENST00000432427.2:c.1081G>C (RAF1)	ENSP00000398591.2:p.Val361Leu
ENST00000442415.6:c.1504G>C (RAF1)	ENSP00000401888.2:p.Val502Leu
ENST00000471449.1:n.133G>C (RAF1)
NM_002880.3:c.1444G>C , LRG_413t1:c.1444G>C (RAF1)	NP_002871.1:p.Val482Leu
XM_005265355.1:c.1444G>C (RAF1)	XP_005265412.1:p.Val482Leu
XM_005265357.1:c.1345G>C (RAF1)	XP_005265414.1:p.Val449Leu
XM_005265358.3:c.1201G>C (RAF1)	XP_005265415.1:p.Val401Leu
XM_005265359.3:c.1102G>C (RAF1)	XP_005265416.1:p.Val368Leu
XM_005265360.1:c.1418-367G>C (RAF1)	XP_005265417.1:n.1418-367G>C
XM_011533974.1:c.1444G>C (RAF1)	XP_011532276.1:p.Val482Leu
XM_011533975.1:c.1201G>C (RAF1)	XP_011532277.1:p.Val401Leu
NM_001354689.1:c.1504G>C (RAF1)	NP_001341618.1:p.Val502Leu
NM_001354690.1:c.1444G>C (RAF1)	NP_001341619.1:p.Val482Leu
NM_001354691.1:c.1201G>C (RAF1)	NP_001341620.1:p.Val401Leu
NM_001354692.1:c.1201G>C (RAF1)	NP_001341621.1:p.Val401Leu
NM_001354693.1:c.1345G>C (RAF1)	NP_001341622.1:p.Val449Leu
NM_001354694.1:c.1261G>C (RAF1)	NP_001341623.1:p.Val421Leu
NM_001354695.1:c.1102G>C (RAF1)	NP_001341624.1:p.Val368Leu
NR_148940.1:n.1972G>C (RAF1)
NR_148941.1:n.1918G>C (RAF1)
NR_148942.1:n.1857G>C (RAF1)
XM_011533974.3:c.1444G>C (RAF1)	XP_011532276.1:p.Val482Leu
XM_017006966.1:c.1345G>C (RAF1)	XP_016862455.1:p.Val449Leu
NM_001354689.3:c.1504G>C (RAF1)	NP_001341618.1:p.Val502Leu
NM_001354690.2:c.1444G>C (RAF1)	NP_001341619.1:p.Val482Leu
NM_001354691.2:c.1201G>C (RAF1)	NP_001341620.1:p.Val401Leu
NM_001354692.2:c.1201G>C (RAF1)	NP_001341621.1:p.Val401Leu
NM_001354693.2:c.1345G>C (RAF1)	NP_001341622.1:p.Val449Leu
NM_001354694.2:c.1261G>C (RAF1)	NP_001341623.1:p.Val421Leu
NM_001354695.2:c.1102G>C (RAF1)	NP_001341624.1:p.Val368Leu
NR_148940.2:n.1888G>C (RAF1)
NR_148941.2:n.1834G>C (RAF1)
NR_148942.2:n.1773G>C (RAF1)
NM_001354690.3:c.1444G>C (RAF1)	NP_001341619.1:p.Val482Leu
NM_001354691.3:c.1201G>C (RAF1)	NP_001341620.1:p.Val401Leu
NM_001354692.3:c.1201G>C (RAF1)	NP_001341621.1:p.Val401Leu
NM_001354693.3:c.1345G>C (RAF1)	NP_001341622.1:p.Val449Leu
NM_001354694.3:c.1261G>C (RAF1)	NP_001341623.1:p.Val421Leu
NM_001354695.3:c.1102G>C (RAF1)	NP_001341624.1:p.Val368Leu
NM_002880.4:c.1444G>C (RAF1) MANE Select	NP_002871.1:p.Val482Leu
NR_148940.3:n.1888G>C (RAF1)
NR_148941.3:n.1834G>C (RAF1)
NR_148942.3:n.1773G>C (RAF1)