Canonical Allele Identifier: CA351498791

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627187A>C (hg19) ; chr3:g.12585688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585688A>C , CM000665.2:g.12585688A>C	GRCh38
NC_000003.11:g.12627187A>C , CM000665.1:g.12627187A>C	GRCh37
NC_000003.10:g.12602187A>C	NCBI36
NG_007467.1:g.83492T>G , LRG_413:g.83492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1194T>G (RAF1)	ENSP00000401088.1:n.*1194T>G
ENST00000432427.3:c.846T>G (RAF1)
ENST00000460610.2:n.5274T>G (RAF1)
ENST00000471449.2:n.339T>G (RAF1)
ENST00000475353.2:n.3242T>G (RAF1)
ENST00000684903.1:c.*1206T>G (RAF1)	ENSP00000508612.1:n.*1206T>G
ENST00000685348.1:c.*1095-282T>G (RAF1)	ENSP00000510285.1:n.*1095-282T>G
ENST00000685437.1:c.1430T>G (RAF1)	ENSP00000508794.1:p.Leu477Arg
ENST00000685653.1:c.1529T>G (RAF1)	ENSP00000509968.1:p.Leu510Arg
ENST00000685697.1:n.2264T>G (RAF1)
ENST00000685738.1:c.*493T>G (RAF1)	ENSP00000510156.1:n.*493T>G
ENST00000686409.1:n.4371T>G (RAF1)
ENST00000686455.1:n.3683T>G (RAF1)
ENST00000686762.1:c.*88T>G (RAF1)	ENSP00000509767.1:n.*88T>G
ENST00000687257.1:n.3556T>G (RAF1)
ENST00000687326.1:c.*2254T>G (RAF1)	ENSP00000509665.1:n.*2254T>G
ENST00000687505.1:n.1647T>G (RAF1)
ENST00000687923.1:c.1418T>G (RAF1)	ENSP00000510255.1:p.Leu473Arg
ENST00000688269.1:n.2125T>G (RAF1)
ENST00000688444.1:n.3646T>G (RAF1)
ENST00000688543.1:c.1430T>G (RAF1)	ENSP00000509612.1:p.Leu477Arg
ENST00000688625.1:c.*2898T>G (RAF1)	ENSP00000509522.1:n.*2898T>G
ENST00000688803.1:n.2965-435T>G (RAF1)
ENST00000688914.1:n.515T>G (RAF1)
ENST00000689097.1:c.*1206T>G (RAF1)	ENSP00000509756.1:n.*1206T>G
ENST00000689389.1:c.1352T>G (RAF1)	ENSP00000510213.1:p.Leu451Arg
ENST00000689418.1:c.*2997T>G (RAF1)	ENSP00000509467.1:n.*2997T>G
ENST00000689540.1:n.3470T>G (RAF1)
ENST00000689876.1:c.1418-282T>G (RAF1)	ENSP00000508535.1:n.1418-282T>G
ENST00000689914.1:c.*463T>G (RAF1)	ENSP00000509847.1:n.*463T>G
ENST00000690397.1:c.1418T>G (RAF1)	ENSP00000508730.1:p.Leu473Arg
ENST00000690460.1:c.1517T>G (RAF1)	ENSP00000509106.1:p.Leu506Arg
ENST00000690585.1:c.263-435T>G (RAF1)
ENST00000690625.1:n.2565T>G (RAF1)
ENST00000691396.1:c.*1401T>G (RAF1)	ENSP00000510712.1:n.*1401T>G
ENST00000691643.1:n.2155T>G (RAF1)
ENST00000691724.1:c.*486T>G (RAF1)	ENSP00000509255.1:n.*486T>G
ENST00000691779.1:c.*1107T>G (RAF1)	ENSP00000508592.1:n.*1107T>G
ENST00000691888.1:c.403T>G (RAF1)
ENST00000691899.1:c.1529T>G (RAF1)	ENSP00000508763.1:p.Leu510Arg
ENST00000692069.1:n.3886T>G (RAF1)
ENST00000692093.1:c.1430T>G (RAF1)	ENSP00000509669.1:p.Leu477Arg
ENST00000692311.1:n.2353T>G (RAF1)
ENST00000692558.1:n.3685T>G (RAF1)
ENST00000692773.1:c.*1266T>G (RAF1)	ENSP00000509055.1:n.*1266T>G
ENST00000692830.1:c.*1274T>G (RAF1)	ENSP00000509461.1:n.*1274T>G
ENST00000693312.1:c.1304T>G (RAF1)	ENSP00000508686.1:p.Leu435Arg
ENST00000693664.1:c.1488-435T>G (RAF1)	ENSP00000509614.1:n.1488-435T>G
ENST00000693705.1:c.*1048-707T>G (RAF1)	ENSP00000510697.1:n.*1048-707T>G
ENST00000251849.9:c.1529T>G (RAF1) MANE Select	ENSP00000251849.4:p.Leu510Arg
ENST00000442415.7:c.1589T>G (RAF1)	ENSP00000401888.2:p.Leu530Arg
ENST00000676541.1:c.*3435A>C (MKRN2)	ENSP00000503730.1:n.*3435A>C
ENST00000677142.1:c.*3435A>C (MKRN2)	ENSP00000504455.1:n.*3435A>C
ENST00000677816.1:c.*1990A>C (MKRN2)	ENSP00000502893.1:n.*1990A>C
ENST00000677941.1:n.3498A>C (MKRN2)
ENST00000251849.8:c.1529T>G (RAF1)	ENSP00000251849.4:p.Leu510Arg
ENST00000423275.5:c.*1206T>G (RAF1)	ENSP00000401088.1:n.*1206T>G
ENST00000432427.2:c.1166T>G (RAF1)	ENSP00000398591.2:p.Leu389Arg
ENST00000442415.6:c.1589T>G (RAF1)	ENSP00000401888.2:p.Leu530Arg
ENST00000471449.1:n.218T>G (RAF1)
NM_002880.3:c.1529T>G , LRG_413t1:c.1529T>G (RAF1)	NP_002871.1:p.Leu510Arg
XM_005265355.1:c.1529T>G (RAF1)	XP_005265412.1:p.Leu510Arg
XM_005265357.1:c.1430T>G (RAF1)	XP_005265414.1:p.Leu477Arg
XM_005265358.3:c.1286T>G (RAF1)	XP_005265415.1:p.Leu429Arg
XM_005265359.3:c.1187T>G (RAF1)	XP_005265416.1:p.Leu396Arg
XM_005265360.1:c.1418-282T>G (RAF1)	XP_005265417.1:n.1418-282T>G
XM_011533974.1:c.1529T>G (RAF1)	XP_011532276.1:p.Leu510Arg
XM_011533975.1:c.1286T>G (RAF1)	XP_011532277.1:p.Leu429Arg
NM_001354689.1:c.1589T>G (RAF1)	NP_001341618.1:p.Leu530Arg
NM_001354690.1:c.1529T>G (RAF1)	NP_001341619.1:p.Leu510Arg
NM_001354691.1:c.1286T>G (RAF1)	NP_001341620.1:p.Leu429Arg
NM_001354692.1:c.1286T>G (RAF1)	NP_001341621.1:p.Leu429Arg
NM_001354693.1:c.1430T>G (RAF1)	NP_001341622.1:p.Leu477Arg
NM_001354694.1:c.1346T>G (RAF1)	NP_001341623.1:p.Leu449Arg
NM_001354695.1:c.1187T>G (RAF1)	NP_001341624.1:p.Leu396Arg
NR_148940.1:n.2057T>G (RAF1)
NR_148941.1:n.2003T>G (RAF1)
NR_148942.1:n.1942T>G (RAF1)
XM_011533974.3:c.1529T>G (RAF1)	XP_011532276.1:p.Leu510Arg
XM_017006966.1:c.1430T>G (RAF1)	XP_016862455.1:p.Leu477Arg
NM_001354689.3:c.1589T>G (RAF1)	NP_001341618.1:p.Leu530Arg
NM_001354690.2:c.1529T>G (RAF1)	NP_001341619.1:p.Leu510Arg
NM_001354691.2:c.1286T>G (RAF1)	NP_001341620.1:p.Leu429Arg
NM_001354692.2:c.1286T>G (RAF1)	NP_001341621.1:p.Leu429Arg
NM_001354693.2:c.1430T>G (RAF1)	NP_001341622.1:p.Leu477Arg
NM_001354694.2:c.1346T>G (RAF1)	NP_001341623.1:p.Leu449Arg
NM_001354695.2:c.1187T>G (RAF1)	NP_001341624.1:p.Leu396Arg
NR_148940.2:n.1973T>G (RAF1)
NR_148941.2:n.1919T>G (RAF1)
NR_148942.2:n.1858T>G (RAF1)
NM_001354690.3:c.1529T>G (RAF1)	NP_001341619.1:p.Leu510Arg
NM_001354691.3:c.1286T>G (RAF1)	NP_001341620.1:p.Leu429Arg
NM_001354692.3:c.1286T>G (RAF1)	NP_001341621.1:p.Leu429Arg
NM_001354693.3:c.1430T>G (RAF1)	NP_001341622.1:p.Leu477Arg
NM_001354694.3:c.1346T>G (RAF1)	NP_001341623.1:p.Leu449Arg
NM_001354695.3:c.1187T>G (RAF1)	NP_001341624.1:p.Leu396Arg
NM_002880.4:c.1529T>G (RAF1) MANE Select	NP_002871.1:p.Leu510Arg
NR_148940.3:n.1973T>G (RAF1)
NR_148941.3:n.1919T>G (RAF1)
NR_148942.3:n.1858T>G (RAF1)