Canonical Allele Identifier: CA351499174

Gene: RAF1 MKRN2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585766A>G , CM000665.2:g.12585766A>G	GRCh38
NC_000003.11:g.12627265A>G , CM000665.1:g.12627265A>G	GRCh37
NC_000003.10:g.12602265A>G	NCBI36
NG_007467.1:g.83414T>C , LRG_413:g.83414T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1116T>C (RAF1)	ENSP00000401088.1:n.*1116T>C
ENST00000432427.3:c.768T>C (RAF1)
ENST00000460610.2:n.5196T>C (RAF1)
ENST00000471449.2:n.261T>C (RAF1)
ENST00000475353.2:n.3164T>C (RAF1)
ENST00000684903.1:c.*1128T>C (RAF1)	ENSP00000508612.1:n.*1128T>C
ENST00000685348.1:c.*1095-360T>C (RAF1)	ENSP00000510285.1:n.*1095-360T>C
ENST00000685437.1:c.1352T>C (RAF1)	ENSP00000508794.1:p.Ile451Thr
ENST00000685653.1:c.1451T>C (RAF1)	ENSP00000509968.1:p.Ile484Thr
ENST00000685697.1:n.2186T>C (RAF1)
ENST00000685738.1:c.*415T>C (RAF1)	ENSP00000510156.1:n.*415T>C
ENST00000686409.1:n.4293T>C (RAF1)
ENST00000686455.1:n.3605T>C (RAF1)
ENST00000686762.1:c.*10T>C (RAF1)	ENSP00000509767.1:n.*10T>C
ENST00000687257.1:n.3478T>C (RAF1)
ENST00000687326.1:c.*2176T>C (RAF1)	ENSP00000509665.1:n.*2176T>C
ENST00000687505.1:n.1569T>C (RAF1)
ENST00000687923.1:c.1340T>C (RAF1)	ENSP00000510255.1:p.Ile447Thr
ENST00000688269.1:n.2047T>C (RAF1)
ENST00000688444.1:n.3568T>C (RAF1)
ENST00000688543.1:c.1352T>C (RAF1)	ENSP00000509612.1:p.Ile451Thr
ENST00000688625.1:c.*2820T>C (RAF1)	ENSP00000509522.1:n.*2820T>C
ENST00000688803.1:n.2964+509T>C (RAF1)
ENST00000688914.1:n.437T>C (RAF1)
ENST00000689097.1:c.*1128T>C (RAF1)	ENSP00000509756.1:n.*1128T>C
ENST00000689389.1:c.1274T>C (RAF1)	ENSP00000510213.1:p.Ile425Thr
ENST00000689418.1:c.*2919T>C (RAF1)	ENSP00000509467.1:n.*2919T>C
ENST00000689540.1:n.3392T>C (RAF1)
ENST00000689876.1:c.1418-360T>C (RAF1)	ENSP00000508535.1:n.1418-360T>C
ENST00000689914.1:c.*385T>C (RAF1)	ENSP00000509847.1:n.*385T>C
ENST00000690397.1:c.1340T>C (RAF1)	ENSP00000508730.1:p.Ile447Thr
ENST00000690460.1:c.1439T>C (RAF1)	ENSP00000509106.1:p.Ile480Thr
ENST00000690585.1:c.263-513T>C (RAF1)
ENST00000690625.1:n.2487T>C (RAF1)
ENST00000691396.1:c.*1323T>C (RAF1)	ENSP00000510712.1:n.*1323T>C
ENST00000691643.1:n.2077T>C (RAF1)
ENST00000691724.1:c.*408T>C (RAF1)	ENSP00000509255.1:n.*408T>C
ENST00000691779.1:c.*1029T>C (RAF1)	ENSP00000508592.1:n.*1029T>C
ENST00000691888.1:c.325T>C (RAF1)
ENST00000691899.1:c.1451T>C (RAF1)	ENSP00000508763.1:p.Ile484Thr
ENST00000692069.1:n.3808T>C (RAF1)
ENST00000692093.1:c.1352T>C (RAF1)	ENSP00000509669.1:p.Ile451Thr
ENST00000692311.1:n.2275T>C (RAF1)
ENST00000692558.1:n.3607T>C (RAF1)
ENST00000692773.1:c.*1188T>C (RAF1)	ENSP00000509055.1:n.*1188T>C
ENST00000692830.1:c.*1196T>C (RAF1)	ENSP00000509461.1:n.*1196T>C
ENST00000693312.1:c.1226T>C (RAF1)	ENSP00000508686.1:p.Ile409Thr
ENST00000693664.1:c.1487+509T>C (RAF1)	ENSP00000509614.1:n.1487+509T>C
ENST00000693705.1:c.*1048-785T>C (RAF1)	ENSP00000510697.1:n.*1048-785T>C
ENST00000251849.9:c.1451T>C (RAF1) MANE Select	ENSP00000251849.4:p.Ile484Thr
ENST00000442415.7:c.1511T>C (RAF1)	ENSP00000401888.2:p.Ile504Thr
ENST00000676541.1:c.*3513A>G (MKRN2)	ENSP00000503730.1:n.*3513A>G
ENST00000677142.1:c.*3513A>G (MKRN2)	ENSP00000504455.1:n.*3513A>G
ENST00000677816.1:c.*2068A>G (MKRN2)	ENSP00000502893.1:n.*2068A>G
ENST00000677941.1:n.3576A>G (MKRN2)
ENST00000251849.8:c.1451T>C (RAF1)	ENSP00000251849.4:p.Ile484Thr
ENST00000423275.5:c.*1128T>C (RAF1)	ENSP00000401088.1:n.*1128T>C
ENST00000432427.2:c.1088T>C (RAF1)	ENSP00000398591.2:p.Ile363Thr
ENST00000442415.6:c.1511T>C (RAF1)	ENSP00000401888.2:p.Ile504Thr
ENST00000471449.1:n.140T>C (RAF1)
NM_002880.3:c.1451T>C , LRG_413t1:c.1451T>C (RAF1)	NP_002871.1:p.Ile484Thr
XM_005265355.1:c.1451T>C (RAF1)	XP_005265412.1:p.Ile484Thr
XM_005265357.1:c.1352T>C (RAF1)	XP_005265414.1:p.Ile451Thr
XM_005265358.3:c.1208T>C (RAF1)	XP_005265415.1:p.Ile403Thr
XM_005265359.3:c.1109T>C (RAF1)	XP_005265416.1:p.Ile370Thr
XM_005265360.1:c.1418-360T>C (RAF1)	XP_005265417.1:n.1418-360T>C
XM_011533974.1:c.1451T>C (RAF1)	XP_011532276.1:p.Ile484Thr
XM_011533975.1:c.1208T>C (RAF1)	XP_011532277.1:p.Ile403Thr
NM_001354689.1:c.1511T>C (RAF1)	NP_001341618.1:p.Ile504Thr
NM_001354690.1:c.1451T>C (RAF1)	NP_001341619.1:p.Ile484Thr
NM_001354691.1:c.1208T>C (RAF1)	NP_001341620.1:p.Ile403Thr
NM_001354692.1:c.1208T>C (RAF1)	NP_001341621.1:p.Ile403Thr
NM_001354693.1:c.1352T>C (RAF1)	NP_001341622.1:p.Ile451Thr
NM_001354694.1:c.1268T>C (RAF1)	NP_001341623.1:p.Ile423Thr
NM_001354695.1:c.1109T>C (RAF1)	NP_001341624.1:p.Ile370Thr
NR_148940.1:n.1979T>C (RAF1)
NR_148941.1:n.1925T>C (RAF1)
NR_148942.1:n.1864T>C (RAF1)
XM_011533974.3:c.1451T>C (RAF1)	XP_011532276.1:p.Ile484Thr
XM_017006966.1:c.1352T>C (RAF1)	XP_016862455.1:p.Ile451Thr
NM_001354689.3:c.1511T>C (RAF1)	NP_001341618.1:p.Ile504Thr
NM_001354690.2:c.1451T>C (RAF1)	NP_001341619.1:p.Ile484Thr
NM_001354691.2:c.1208T>C (RAF1)	NP_001341620.1:p.Ile403Thr
NM_001354692.2:c.1208T>C (RAF1)	NP_001341621.1:p.Ile403Thr
NM_001354693.2:c.1352T>C (RAF1)	NP_001341622.1:p.Ile451Thr
NM_001354694.2:c.1268T>C (RAF1)	NP_001341623.1:p.Ile423Thr
NM_001354695.2:c.1109T>C (RAF1)	NP_001341624.1:p.Ile370Thr
NR_148940.2:n.1895T>C (RAF1)
NR_148941.2:n.1841T>C (RAF1)
NR_148942.2:n.1780T>C (RAF1)
NM_001354690.3:c.1451T>C (RAF1)	NP_001341619.1:p.Ile484Thr
NM_001354691.3:c.1208T>C (RAF1)	NP_001341620.1:p.Ile403Thr
NM_001354692.3:c.1208T>C (RAF1)	NP_001341621.1:p.Ile403Thr
NM_001354693.3:c.1352T>C (RAF1)	NP_001341622.1:p.Ile451Thr
NM_001354694.3:c.1268T>C (RAF1)	NP_001341623.1:p.Ile423Thr
NM_001354695.3:c.1109T>C (RAF1)	NP_001341624.1:p.Ile370Thr
NM_002880.4:c.1451T>C (RAF1) MANE Select	NP_002871.1:p.Ile484Thr
NR_148940.3:n.1895T>C (RAF1)
NR_148941.3:n.1841T>C (RAF1)
NR_148942.3:n.1780T>C (RAF1)