Canonical Allele Identifier: CA432272633

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2058255653
• MyVariant Identifiers: chr3:g.12626045G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584546G>A , CM000665.2:g.12584546G>A	GRCh38
NC_000003.11:g.12626045G>A , CM000665.1:g.12626045G>A	GRCh37
NC_000003.10:g.12601045G>A	NCBI36
NG_007467.1:g.84634C>T , LRG_413:g.84634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1580C>T (RAF1)	ENSP00000401088.1:n.*1580C>T
ENST00000432427.3:c.1232C>T (RAF1)
ENST00000460610.2:n.6227C>T (RAF1)
ENST00000471449.2:n.725C>T (RAF1)
ENST00000475353.2:n.4195C>T (RAF1)
ENST00000684903.1:c.*1592C>T (RAF1)	ENSP00000508612.1:n.*1592C>T
ENST00000685348.1:c.*1626C>T (RAF1)	ENSP00000510285.1:n.*1626C>T
ENST00000685437.1:c.1816C>T (RAF1)	ENSP00000508794.1:p.Leu606=
ENST00000685653.1:c.1915C>T (RAF1)	ENSP00000509968.1:p.Leu639=
ENST00000685697.1:n.2650C>T (RAF1)
ENST00000685738.1:c.*879C>T (RAF1)	ENSP00000510156.1:n.*879C>T
ENST00000686409.1:n.5324C>T (RAF1)
ENST00000686455.1:n.4636C>T (RAF1)
ENST00000686762.1:c.*474C>T (RAF1)	ENSP00000509767.1:n.*474C>T
ENST00000687257.1:n.4369C>T (RAF1)
ENST00000687326.1:c.*3207C>T (RAF1)	ENSP00000509665.1:n.*3207C>T
ENST00000687505.1:n.2033C>T (RAF1)
ENST00000687923.1:c.1804C>T (RAF1)	ENSP00000510255.1:p.Leu602=
ENST00000688269.1:n.2511C>T (RAF1)
ENST00000688444.1:n.4032C>T (RAF1)
ENST00000688543.1:c.1816C>T (RAF1)	ENSP00000509612.1:p.Leu606=
ENST00000688625.1:c.*3284C>T (RAF1)	ENSP00000509522.1:n.*3284C>T
ENST00000688803.1:n.3343C>T (RAF1)
ENST00000689097.1:c.*1592C>T (RAF1)	ENSP00000509756.1:n.*1592C>T
ENST00000689389.1:c.1738C>T (RAF1)	ENSP00000510213.1:p.Leu580=
ENST00000689418.1:c.*3810C>T (RAF1)	ENSP00000509467.1:n.*3810C>T
ENST00000689540.1:n.4283C>T (RAF1)
ENST00000689876.1:c.*464C>T (RAF1)	ENSP00000508535.1:n.*464C>T
ENST00000689914.1:c.*849C>T (RAF1)	ENSP00000509847.1:n.*849C>T
ENST00000690397.1:c.1804C>T (RAF1)	ENSP00000508730.1:p.Leu602=
ENST00000690460.1:c.1903C>T (RAF1)	ENSP00000509106.1:p.Leu635=
ENST00000690585.1:c.641C>T (RAF1)
ENST00000690625.1:n.2951C>T (RAF1)
ENST00000691396.1:c.*1787C>T (RAF1)	ENSP00000510712.1:n.*1787C>T
ENST00000691643.1:n.2968C>T (RAF1)
ENST00000691724.1:c.*872C>T (RAF1)	ENSP00000509255.1:n.*872C>T
ENST00000691779.1:c.*1493C>T (RAF1)	ENSP00000508592.1:n.*1493C>T
ENST00000691888.1:c.789C>T (RAF1)
ENST00000691899.1:c.1915C>T (RAF1)	ENSP00000508763.1:p.Leu639=
ENST00000692069.1:n.4839C>T (RAF1)
ENST00000692093.1:c.1816C>T (RAF1)	ENSP00000509669.1:p.Leu606=
ENST00000692311.1:n.2739C>T (RAF1)
ENST00000692558.1:n.4498C>T (RAF1)
ENST00000692773.1:c.*1652C>T (RAF1)	ENSP00000509055.1:n.*1652C>T
ENST00000692830.1:c.*1660C>T (RAF1)	ENSP00000509461.1:n.*1660C>T
ENST00000693312.1:c.1690C>T (RAF1)	ENSP00000508686.1:p.Leu564=
ENST00000693664.1:c.*366C>T (RAF1)	ENSP00000509614.1:n.*366C>T
ENST00000693705.1:c.*1294C>T (RAF1)	ENSP00000510697.1:n.*1294C>T
ENST00000251849.9:c.1915C>T (RAF1) MANE Select	ENSP00000251849.4:p.Leu639=
ENST00000442415.7:c.1975C>T (RAF1)	ENSP00000401888.2:p.Leu659=
ENST00000676541.1:c.*2293G>A (MKRN2)	ENSP00000503730.1:n.*2293G>A
ENST00000677142.1:c.*2293G>A (MKRN2)	ENSP00000504455.1:n.*2293G>A
ENST00000677816.1:c.*848G>A (MKRN2)	ENSP00000502893.1:n.*848G>A
ENST00000677941.1:n.2356G>A (MKRN2)
ENST00000251849.8:c.1915C>T (RAF1)	ENSP00000251849.4:p.Leu639=
ENST00000423275.5:c.*1592C>T (RAF1)	ENSP00000401088.1:n.*1592C>T
ENST00000432427.2:c.1552C>T (RAF1)	ENSP00000398591.2:p.Leu518=
ENST00000442415.6:c.1975C>T (RAF1)	ENSP00000401888.2:p.Leu659=
ENST00000471449.1:n.604C>T (RAF1)
NM_002880.3:c.1915C>T , LRG_413t1:c.1915C>T (RAF1)	NP_002871.1:p.Leu639=
XM_005265355.1:c.1915C>T (RAF1)	XP_005265412.1:p.Leu639=
XM_005265357.1:c.1816C>T (RAF1)	XP_005265414.1:p.Leu606=
XM_005265358.3:c.1672C>T (RAF1)	XP_005265415.1:p.Leu558=
XM_005265359.3:c.1573C>T (RAF1)	XP_005265416.1:p.Leu525=
XM_011533974.1:c.1915C>T (RAF1)	XP_011532276.1:p.Leu639=
XM_011533975.1:c.1672C>T (RAF1)	XP_011532277.1:p.Leu558=
NM_001354689.1:c.1975C>T (RAF1)	NP_001341618.1:p.Leu659=
NM_001354690.1:c.1915C>T (RAF1)	NP_001341619.1:p.Leu639=
NM_001354691.1:c.1672C>T (RAF1)	NP_001341620.1:p.Leu558=
NM_001354692.1:c.1672C>T (RAF1)	NP_001341621.1:p.Leu558=
NM_001354693.1:c.1816C>T (RAF1)	NP_001341622.1:p.Leu606=
NM_001354694.1:c.1732C>T (RAF1)	NP_001341623.1:p.Leu578=
NM_001354695.1:c.1573C>T (RAF1)	NP_001341624.1:p.Leu525=
NR_148940.1:n.2443C>T (RAF1)
NR_148941.1:n.2389C>T (RAF1)
NR_148942.1:n.2328C>T (RAF1)
XM_011533974.3:c.1915C>T (RAF1)	XP_011532276.1:p.Leu639=
XM_017006966.1:c.1816C>T (RAF1)	XP_016862455.1:p.Leu606=
NM_001354689.3:c.1975C>T (RAF1)	NP_001341618.1:p.Leu659=
NM_001354690.2:c.1915C>T (RAF1)	NP_001341619.1:p.Leu639=
NM_001354691.2:c.1672C>T (RAF1)	NP_001341620.1:p.Leu558=
NM_001354692.2:c.1672C>T (RAF1)	NP_001341621.1:p.Leu558=
NM_001354693.2:c.1816C>T (RAF1)	NP_001341622.1:p.Leu606=
NM_001354694.2:c.1732C>T (RAF1)	NP_001341623.1:p.Leu578=
NM_001354695.2:c.1573C>T (RAF1)	NP_001341624.1:p.Leu525=
NR_148940.2:n.2359C>T (RAF1)
NR_148941.2:n.2305C>T (RAF1)
NR_148942.2:n.2244C>T (RAF1)
NM_001354690.3:c.1915C>T (RAF1)	NP_001341619.1:p.Leu639=
NM_001354691.3:c.1672C>T (RAF1)	NP_001341620.1:p.Leu558=
NM_001354692.3:c.1672C>T (RAF1)	NP_001341621.1:p.Leu558=
NM_001354693.3:c.1816C>T (RAF1)	NP_001341622.1:p.Leu606=
NM_001354694.3:c.1732C>T (RAF1)	NP_001341623.1:p.Leu578=
NM_001354695.3:c.1573C>T (RAF1)	NP_001341624.1:p.Leu525=
NM_002880.4:c.1915C>T (RAF1) MANE Select	NP_002871.1:p.Leu639=
NR_148940.3:n.2359C>T (RAF1)
NR_148941.3:n.2305C>T (RAF1)
NR_148942.3:n.2244C>T (RAF1)