Canonical Allele Identifier: CA351496561

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626375C>G (hg19) ; chr3:g.12584876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584876C>G , CM000665.2:g.12584876C>G	GRCh38
NC_000003.11:g.12626375C>G , CM000665.1:g.12626375C>G	GRCh37
NC_000003.10:g.12601375C>G	NCBI36
NG_007467.1:g.84304G>C , LRG_413:g.84304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1439G>C (RAF1)	ENSP00000401088.1:n.*1439G>C
ENST00000432427.3:c.1091G>C (RAF1)
ENST00000460610.2:n.6086G>C (RAF1)
ENST00000471449.2:n.584G>C (RAF1)
ENST00000475353.2:n.4054G>C (RAF1)
ENST00000684903.1:c.*1451G>C (RAF1)	ENSP00000508612.1:n.*1451G>C
ENST00000685348.1:c.*1485G>C (RAF1)	ENSP00000510285.1:n.*1485G>C
ENST00000685437.1:c.1675G>C (RAF1)	ENSP00000508794.1:p.Val559Leu
ENST00000685653.1:c.1774G>C (RAF1)	ENSP00000509968.1:p.Val592Leu
ENST00000685697.1:n.2509G>C (RAF1)
ENST00000685738.1:c.*738G>C (RAF1)	ENSP00000510156.1:n.*738G>C
ENST00000686409.1:n.5183G>C (RAF1)
ENST00000686455.1:n.4495G>C (RAF1)
ENST00000686762.1:c.*333G>C (RAF1)	ENSP00000509767.1:n.*333G>C
ENST00000687257.1:n.4228G>C (RAF1)
ENST00000687326.1:c.*3066G>C (RAF1)	ENSP00000509665.1:n.*3066G>C
ENST00000687505.1:n.1892G>C (RAF1)
ENST00000687923.1:c.1663G>C (RAF1)	ENSP00000510255.1:p.Val555Leu
ENST00000688269.1:n.2370G>C (RAF1)
ENST00000688444.1:n.3891G>C (RAF1)
ENST00000688543.1:c.1675G>C (RAF1)	ENSP00000509612.1:p.Val559Leu
ENST00000688625.1:c.*3143G>C (RAF1)	ENSP00000509522.1:n.*3143G>C
ENST00000688803.1:n.3202G>C (RAF1)
ENST00000689097.1:c.*1451G>C (RAF1)	ENSP00000509756.1:n.*1451G>C
ENST00000689389.1:c.1597G>C (RAF1)	ENSP00000510213.1:p.Val533Leu
ENST00000689418.1:c.*3669G>C (RAF1)	ENSP00000509467.1:n.*3669G>C
ENST00000689540.1:n.4142G>C (RAF1)
ENST00000689876.1:c.*323G>C (RAF1)	ENSP00000508535.1:n.*323G>C
ENST00000689914.1:c.*708G>C (RAF1)	ENSP00000509847.1:n.*708G>C
ENST00000690397.1:c.1663G>C (RAF1)	ENSP00000508730.1:p.Val555Leu
ENST00000690460.1:c.1762G>C (RAF1)	ENSP00000509106.1:p.Val588Leu
ENST00000690585.1:c.500G>C (RAF1)
ENST00000690625.1:n.2810G>C (RAF1)
ENST00000691396.1:c.*1646G>C (RAF1)	ENSP00000510712.1:n.*1646G>C
ENST00000691643.1:n.2827G>C (RAF1)
ENST00000691724.1:c.*731G>C (RAF1)	ENSP00000509255.1:n.*731G>C
ENST00000691779.1:c.*1352G>C (RAF1)	ENSP00000508592.1:n.*1352G>C
ENST00000691888.1:c.648G>C (RAF1)
ENST00000691899.1:c.1774G>C (RAF1)	ENSP00000508763.1:p.Val592Leu
ENST00000692069.1:n.4698G>C (RAF1)
ENST00000692093.1:c.1675G>C (RAF1)	ENSP00000509669.1:p.Val559Leu
ENST00000692311.1:n.2598G>C (RAF1)
ENST00000692558.1:n.4357G>C (RAF1)
ENST00000692773.1:c.*1511G>C (RAF1)	ENSP00000509055.1:n.*1511G>C
ENST00000692830.1:c.*1519G>C (RAF1)	ENSP00000509461.1:n.*1519G>C
ENST00000693312.1:c.1549G>C (RAF1)	ENSP00000508686.1:p.Val517Leu
ENST00000693664.1:c.*225G>C (RAF1)	ENSP00000509614.1:n.*225G>C
ENST00000693705.1:c.*1153G>C (RAF1)	ENSP00000510697.1:n.*1153G>C
ENST00000251849.9:c.1774G>C (RAF1) MANE Select	ENSP00000251849.4:p.Val592Leu
ENST00000442415.7:c.1834G>C (RAF1)	ENSP00000401888.2:p.Val612Leu
ENST00000676541.1:c.*2623C>G (MKRN2)	ENSP00000503730.1:n.*2623C>G
ENST00000677142.1:c.*2623C>G (MKRN2)	ENSP00000504455.1:n.*2623C>G
ENST00000677816.1:c.*1178C>G (MKRN2)	ENSP00000502893.1:n.*1178C>G
ENST00000677941.1:n.2686C>G (MKRN2)
ENST00000251849.8:c.1774G>C (RAF1)	ENSP00000251849.4:p.Val592Leu
ENST00000423275.5:c.*1451G>C (RAF1)	ENSP00000401088.1:n.*1451G>C
ENST00000432427.2:c.1411G>C (RAF1)	ENSP00000398591.2:p.Val471Leu
ENST00000442415.6:c.1834G>C (RAF1)	ENSP00000401888.2:p.Val612Leu
ENST00000471449.1:n.463G>C (RAF1)
NM_002880.3:c.1774G>C , LRG_413t1:c.1774G>C (RAF1)	NP_002871.1:p.Val592Leu
XM_005265355.1:c.1774G>C (RAF1)	XP_005265412.1:p.Val592Leu
XM_005265357.1:c.1675G>C (RAF1)	XP_005265414.1:p.Val559Leu
XM_005265358.3:c.1531G>C (RAF1)	XP_005265415.1:p.Val511Leu
XM_005265359.3:c.1432G>C (RAF1)	XP_005265416.1:p.Val478Leu
XM_011533974.1:c.1774G>C (RAF1)	XP_011532276.1:p.Val592Leu
XM_011533975.1:c.1531G>C (RAF1)	XP_011532277.1:p.Val511Leu
NM_001354689.1:c.1834G>C (RAF1)	NP_001341618.1:p.Val612Leu
NM_001354690.1:c.1774G>C (RAF1)	NP_001341619.1:p.Val592Leu
NM_001354691.1:c.1531G>C (RAF1)	NP_001341620.1:p.Val511Leu
NM_001354692.1:c.1531G>C (RAF1)	NP_001341621.1:p.Val511Leu
NM_001354693.1:c.1675G>C (RAF1)	NP_001341622.1:p.Val559Leu
NM_001354694.1:c.1591G>C (RAF1)	NP_001341623.1:p.Val531Leu
NM_001354695.1:c.1432G>C (RAF1)	NP_001341624.1:p.Val478Leu
NR_148940.1:n.2302G>C (RAF1)
NR_148941.1:n.2248G>C (RAF1)
NR_148942.1:n.2187G>C (RAF1)
XM_011533974.3:c.1774G>C (RAF1)	XP_011532276.1:p.Val592Leu
XM_017006966.1:c.1675G>C (RAF1)	XP_016862455.1:p.Val559Leu
NM_001354689.3:c.1834G>C (RAF1)	NP_001341618.1:p.Val612Leu
NM_001354690.2:c.1774G>C (RAF1)	NP_001341619.1:p.Val592Leu
NM_001354691.2:c.1531G>C (RAF1)	NP_001341620.1:p.Val511Leu
NM_001354692.2:c.1531G>C (RAF1)	NP_001341621.1:p.Val511Leu
NM_001354693.2:c.1675G>C (RAF1)	NP_001341622.1:p.Val559Leu
NM_001354694.2:c.1591G>C (RAF1)	NP_001341623.1:p.Val531Leu
NM_001354695.2:c.1432G>C (RAF1)	NP_001341624.1:p.Val478Leu
NR_148940.2:n.2218G>C (RAF1)
NR_148941.2:n.2164G>C (RAF1)
NR_148942.2:n.2103G>C (RAF1)
NM_001354690.3:c.1774G>C (RAF1)	NP_001341619.1:p.Val592Leu
NM_001354691.3:c.1531G>C (RAF1)	NP_001341620.1:p.Val511Leu
NM_001354692.3:c.1531G>C (RAF1)	NP_001341621.1:p.Val511Leu
NM_001354693.3:c.1675G>C (RAF1)	NP_001341622.1:p.Val559Leu
NM_001354694.3:c.1591G>C (RAF1)	NP_001341623.1:p.Val531Leu
NM_001354695.3:c.1432G>C (RAF1)	NP_001341624.1:p.Val478Leu
NM_002880.4:c.1774G>C (RAF1) MANE Select	NP_002871.1:p.Val592Leu
NR_148940.3:n.2218G>C (RAF1)
NR_148941.3:n.2164G>C (RAF1)
NR_148942.3:n.2103G>C (RAF1)