Canonical Allele Identifier: CA432272706

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2058262007
• MyVariant Identifiers: chr3:g.12626138G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584639G>A , CM000665.2:g.12584639G>A	GRCh38
NC_000003.11:g.12626138G>A , CM000665.1:g.12626138G>A	GRCh37
NC_000003.10:g.12601138G>A	NCBI36
NG_007467.1:g.84541C>T , LRG_413:g.84541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1487C>T (RAF1)	ENSP00000401088.1:n.*1487C>T
ENST00000432427.3:c.1139C>T (RAF1)
ENST00000460610.2:n.6134C>T (RAF1)
ENST00000471449.2:n.632C>T (RAF1)
ENST00000475353.2:n.4102C>T (RAF1)
ENST00000684903.1:c.*1499C>T (RAF1)	ENSP00000508612.1:n.*1499C>T
ENST00000685348.1:c.*1533C>T (RAF1)	ENSP00000510285.1:n.*1533C>T
ENST00000685437.1:c.1723C>T (RAF1)	ENSP00000508794.1:p.Leu575=
ENST00000685653.1:c.1822C>T (RAF1)	ENSP00000509968.1:p.Leu608=
ENST00000685697.1:n.2557C>T (RAF1)
ENST00000685738.1:c.*786C>T (RAF1)	ENSP00000510156.1:n.*786C>T
ENST00000686409.1:n.5231C>T (RAF1)
ENST00000686455.1:n.4543C>T (RAF1)
ENST00000686762.1:c.*381C>T (RAF1)	ENSP00000509767.1:n.*381C>T
ENST00000687257.1:n.4276C>T (RAF1)
ENST00000687326.1:c.*3114C>T (RAF1)	ENSP00000509665.1:n.*3114C>T
ENST00000687505.1:n.1940C>T (RAF1)
ENST00000687923.1:c.1711C>T (RAF1)	ENSP00000510255.1:p.Leu571=
ENST00000688269.1:n.2418C>T (RAF1)
ENST00000688444.1:n.3939C>T (RAF1)
ENST00000688543.1:c.1723C>T (RAF1)	ENSP00000509612.1:p.Leu575=
ENST00000688625.1:c.*3191C>T (RAF1)	ENSP00000509522.1:n.*3191C>T
ENST00000688803.1:n.3250C>T (RAF1)
ENST00000689097.1:c.*1499C>T (RAF1)	ENSP00000509756.1:n.*1499C>T
ENST00000689389.1:c.1645C>T (RAF1)	ENSP00000510213.1:p.Leu549=
ENST00000689418.1:c.*3717C>T (RAF1)	ENSP00000509467.1:n.*3717C>T
ENST00000689540.1:n.4190C>T (RAF1)
ENST00000689876.1:c.*371C>T (RAF1)	ENSP00000508535.1:n.*371C>T
ENST00000689914.1:c.*756C>T (RAF1)	ENSP00000509847.1:n.*756C>T
ENST00000690397.1:c.1711C>T (RAF1)	ENSP00000508730.1:p.Leu571=
ENST00000690460.1:c.1810C>T (RAF1)	ENSP00000509106.1:p.Leu604=
ENST00000690585.1:c.548C>T (RAF1)
ENST00000690625.1:n.2858C>T (RAF1)
ENST00000691396.1:c.*1694C>T (RAF1)	ENSP00000510712.1:n.*1694C>T
ENST00000691643.1:n.2875C>T (RAF1)
ENST00000691724.1:c.*779C>T (RAF1)	ENSP00000509255.1:n.*779C>T
ENST00000691779.1:c.*1400C>T (RAF1)	ENSP00000508592.1:n.*1400C>T
ENST00000691888.1:c.696C>T (RAF1)
ENST00000691899.1:c.1822C>T (RAF1)	ENSP00000508763.1:p.Leu608=
ENST00000692069.1:n.4746C>T (RAF1)
ENST00000692093.1:c.1723C>T (RAF1)	ENSP00000509669.1:p.Leu575=
ENST00000692311.1:n.2646C>T (RAF1)
ENST00000692558.1:n.4405C>T (RAF1)
ENST00000692773.1:c.*1559C>T (RAF1)	ENSP00000509055.1:n.*1559C>T
ENST00000692830.1:c.*1567C>T (RAF1)	ENSP00000509461.1:n.*1567C>T
ENST00000693312.1:c.1597C>T (RAF1)	ENSP00000508686.1:p.Leu533=
ENST00000693664.1:c.*273C>T (RAF1)	ENSP00000509614.1:n.*273C>T
ENST00000693705.1:c.*1201C>T (RAF1)	ENSP00000510697.1:n.*1201C>T
ENST00000251849.9:c.1822C>T (RAF1) MANE Select	ENSP00000251849.4:p.Leu608=
ENST00000442415.7:c.1882C>T (RAF1)	ENSP00000401888.2:p.Leu628=
ENST00000676541.1:c.*2386G>A (MKRN2)	ENSP00000503730.1:n.*2386G>A
ENST00000677142.1:c.*2386G>A (MKRN2)	ENSP00000504455.1:n.*2386G>A
ENST00000677816.1:c.*941G>A (MKRN2)	ENSP00000502893.1:n.*941G>A
ENST00000677941.1:n.2449G>A (MKRN2)
ENST00000251849.8:c.1822C>T (RAF1)	ENSP00000251849.4:p.Leu608=
ENST00000423275.5:c.*1499C>T (RAF1)	ENSP00000401088.1:n.*1499C>T
ENST00000432427.2:c.1459C>T (RAF1)	ENSP00000398591.2:p.Leu487=
ENST00000442415.6:c.1882C>T (RAF1)	ENSP00000401888.2:p.Leu628=
ENST00000471449.1:n.511C>T (RAF1)
NM_002880.3:c.1822C>T , LRG_413t1:c.1822C>T (RAF1)	NP_002871.1:p.Leu608=
XM_005265355.1:c.1822C>T (RAF1)	XP_005265412.1:p.Leu608=
XM_005265357.1:c.1723C>T (RAF1)	XP_005265414.1:p.Leu575=
XM_005265358.3:c.1579C>T (RAF1)	XP_005265415.1:p.Leu527=
XM_005265359.3:c.1480C>T (RAF1)	XP_005265416.1:p.Leu494=
XM_011533974.1:c.1822C>T (RAF1)	XP_011532276.1:p.Leu608=
XM_011533975.1:c.1579C>T (RAF1)	XP_011532277.1:p.Leu527=
NM_001354689.1:c.1882C>T (RAF1)	NP_001341618.1:p.Leu628=
NM_001354690.1:c.1822C>T (RAF1)	NP_001341619.1:p.Leu608=
NM_001354691.1:c.1579C>T (RAF1)	NP_001341620.1:p.Leu527=
NM_001354692.1:c.1579C>T (RAF1)	NP_001341621.1:p.Leu527=
NM_001354693.1:c.1723C>T (RAF1)	NP_001341622.1:p.Leu575=
NM_001354694.1:c.1639C>T (RAF1)	NP_001341623.1:p.Leu547=
NM_001354695.1:c.1480C>T (RAF1)	NP_001341624.1:p.Leu494=
NR_148940.1:n.2350C>T (RAF1)
NR_148941.1:n.2296C>T (RAF1)
NR_148942.1:n.2235C>T (RAF1)
XM_011533974.3:c.1822C>T (RAF1)	XP_011532276.1:p.Leu608=
XM_017006966.1:c.1723C>T (RAF1)	XP_016862455.1:p.Leu575=
NM_001354689.3:c.1882C>T (RAF1)	NP_001341618.1:p.Leu628=
NM_001354690.2:c.1822C>T (RAF1)	NP_001341619.1:p.Leu608=
NM_001354691.2:c.1579C>T (RAF1)	NP_001341620.1:p.Leu527=
NM_001354692.2:c.1579C>T (RAF1)	NP_001341621.1:p.Leu527=
NM_001354693.2:c.1723C>T (RAF1)	NP_001341622.1:p.Leu575=
NM_001354694.2:c.1639C>T (RAF1)	NP_001341623.1:p.Leu547=
NM_001354695.2:c.1480C>T (RAF1)	NP_001341624.1:p.Leu494=
NR_148940.2:n.2266C>T (RAF1)
NR_148941.2:n.2212C>T (RAF1)
NR_148942.2:n.2151C>T (RAF1)
NM_001354690.3:c.1822C>T (RAF1)	NP_001341619.1:p.Leu608=
NM_001354691.3:c.1579C>T (RAF1)	NP_001341620.1:p.Leu527=
NM_001354692.3:c.1579C>T (RAF1)	NP_001341621.1:p.Leu527=
NM_001354693.3:c.1723C>T (RAF1)	NP_001341622.1:p.Leu575=
NM_001354694.3:c.1639C>T (RAF1)	NP_001341623.1:p.Leu547=
NM_001354695.3:c.1480C>T (RAF1)	NP_001341624.1:p.Leu494=
NM_002880.4:c.1822C>T (RAF1) MANE Select	NP_002871.1:p.Leu608=
NR_148940.3:n.2266C>T (RAF1)
NR_148941.3:n.2212C>T (RAF1)
NR_148942.3:n.2151C>T (RAF1)