Canonical Allele Identifier: CA351495473

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125315853
• MyVariant Identifiers: chr3:g.12626036A>C (hg19) ; chr3:g.12584537A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584537A>C , CM000665.2:g.12584537A>C	GRCh38
NC_000003.11:g.12626036A>C , CM000665.1:g.12626036A>C	GRCh37
NC_000003.10:g.12601036A>C	NCBI36
NG_007467.1:g.84643T>G , LRG_413:g.84643T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1589T>G (RAF1)	ENSP00000401088.1:n.*1589T>G
ENST00000432427.3:c.1241T>G (RAF1)
ENST00000460610.2:n.6236T>G (RAF1)
ENST00000471449.2:n.734T>G (RAF1)
ENST00000475353.2:n.4204T>G (RAF1)
ENST00000684903.1:c.*1601T>G (RAF1)	ENSP00000508612.1:n.*1601T>G
ENST00000685348.1:c.*1635T>G (RAF1)	ENSP00000510285.1:n.*1635T>G
ENST00000685437.1:c.1825T>G (RAF1)	ENSP00000508794.1:p.Ser609Ala
ENST00000685653.1:c.1924T>G (RAF1)	ENSP00000509968.1:p.Ser642Ala
ENST00000685697.1:n.2659T>G (RAF1)
ENST00000685738.1:c.*888T>G (RAF1)	ENSP00000510156.1:n.*888T>G
ENST00000686409.1:n.5333T>G (RAF1)
ENST00000686455.1:n.4645T>G (RAF1)
ENST00000686762.1:c.*483T>G (RAF1)	ENSP00000509767.1:n.*483T>G
ENST00000687257.1:n.4378T>G (RAF1)
ENST00000687326.1:c.*3216T>G (RAF1)	ENSP00000509665.1:n.*3216T>G
ENST00000687505.1:n.2042T>G (RAF1)
ENST00000687923.1:c.1813T>G (RAF1)	ENSP00000510255.1:p.Ser605Ala
ENST00000688269.1:n.2520T>G (RAF1)
ENST00000688444.1:n.4041T>G (RAF1)
ENST00000688543.1:c.1825T>G (RAF1)	ENSP00000509612.1:p.Ser609Ala
ENST00000688625.1:c.*3293T>G (RAF1)	ENSP00000509522.1:n.*3293T>G
ENST00000688803.1:n.3352T>G (RAF1)
ENST00000689097.1:c.*1601T>G (RAF1)	ENSP00000509756.1:n.*1601T>G
ENST00000689389.1:c.1747T>G (RAF1)	ENSP00000510213.1:p.Ser583Ala
ENST00000689418.1:c.*3819T>G (RAF1)	ENSP00000509467.1:n.*3819T>G
ENST00000689540.1:n.4292T>G (RAF1)
ENST00000689876.1:c.*473T>G (RAF1)	ENSP00000508535.1:n.*473T>G
ENST00000689914.1:c.*858T>G (RAF1)	ENSP00000509847.1:n.*858T>G
ENST00000690397.1:c.1813T>G (RAF1)	ENSP00000508730.1:p.Ser605Ala
ENST00000690460.1:c.1912T>G (RAF1)	ENSP00000509106.1:p.Ser638Ala
ENST00000690585.1:c.650T>G (RAF1)
ENST00000690625.1:n.2960T>G (RAF1)
ENST00000691396.1:c.*1796T>G (RAF1)	ENSP00000510712.1:n.*1796T>G
ENST00000691643.1:n.2977T>G (RAF1)
ENST00000691724.1:c.*881T>G (RAF1)	ENSP00000509255.1:n.*881T>G
ENST00000691779.1:c.*1502T>G (RAF1)	ENSP00000508592.1:n.*1502T>G
ENST00000691888.1:c.798T>G (RAF1)
ENST00000691899.1:c.1924T>G (RAF1)	ENSP00000508763.1:p.Ser642Ala
ENST00000692069.1:n.4848T>G (RAF1)
ENST00000692093.1:c.1825T>G (RAF1)	ENSP00000509669.1:p.Ser609Ala
ENST00000692311.1:n.2748T>G (RAF1)
ENST00000692558.1:n.4507T>G (RAF1)
ENST00000692773.1:c.*1661T>G (RAF1)	ENSP00000509055.1:n.*1661T>G
ENST00000692830.1:c.*1669T>G (RAF1)	ENSP00000509461.1:n.*1669T>G
ENST00000693312.1:c.1699T>G (RAF1)	ENSP00000508686.1:p.Ser567Ala
ENST00000693664.1:c.*375T>G (RAF1)	ENSP00000509614.1:n.*375T>G
ENST00000693705.1:c.*1303T>G (RAF1)	ENSP00000510697.1:n.*1303T>G
ENST00000251849.9:c.1924T>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser642Ala
ENST00000442415.7:c.1984T>G (RAF1)	ENSP00000401888.2:p.Ser662Ala
ENST00000676541.1:c.*2284A>C (MKRN2)	ENSP00000503730.1:n.*2284A>C
ENST00000677142.1:c.*2284A>C (MKRN2)	ENSP00000504455.1:n.*2284A>C
ENST00000677816.1:c.*839A>C (MKRN2)	ENSP00000502893.1:n.*839A>C
ENST00000677941.1:n.2347A>C (MKRN2)
ENST00000251849.8:c.1924T>G (RAF1)	ENSP00000251849.4:p.Ser642Ala
ENST00000423275.5:c.*1601T>G (RAF1)	ENSP00000401088.1:n.*1601T>G
ENST00000432427.2:c.1561T>G (RAF1)	ENSP00000398591.2:p.Ser521Ala
ENST00000442415.6:c.1984T>G (RAF1)	ENSP00000401888.2:p.Ser662Ala
ENST00000471449.1:n.613T>G (RAF1)
NM_002880.3:c.1924T>G , LRG_413t1:c.1924T>G (RAF1)	NP_002871.1:p.Ser642Ala
XM_005265355.1:c.1924T>G (RAF1)	XP_005265412.1:p.Ser642Ala
XM_005265357.1:c.1825T>G (RAF1)	XP_005265414.1:p.Ser609Ala
XM_005265358.3:c.1681T>G (RAF1)	XP_005265415.1:p.Ser561Ala
XM_005265359.3:c.1582T>G (RAF1)	XP_005265416.1:p.Ser528Ala
XM_011533974.1:c.1924T>G (RAF1)	XP_011532276.1:p.Ser642Ala
XM_011533975.1:c.1681T>G (RAF1)	XP_011532277.1:p.Ser561Ala
NM_001354689.1:c.1984T>G (RAF1)	NP_001341618.1:p.Ser662Ala
NM_001354690.1:c.1924T>G (RAF1)	NP_001341619.1:p.Ser642Ala
NM_001354691.1:c.1681T>G (RAF1)	NP_001341620.1:p.Ser561Ala
NM_001354692.1:c.1681T>G (RAF1)	NP_001341621.1:p.Ser561Ala
NM_001354693.1:c.1825T>G (RAF1)	NP_001341622.1:p.Ser609Ala
NM_001354694.1:c.1741T>G (RAF1)	NP_001341623.1:p.Ser581Ala
NM_001354695.1:c.1582T>G (RAF1)	NP_001341624.1:p.Ser528Ala
NR_148940.1:n.2452T>G (RAF1)
NR_148941.1:n.2398T>G (RAF1)
NR_148942.1:n.2337T>G (RAF1)
XM_011533974.3:c.1924T>G (RAF1)	XP_011532276.1:p.Ser642Ala
XM_017006966.1:c.1825T>G (RAF1)	XP_016862455.1:p.Ser609Ala
NM_001354689.3:c.1984T>G (RAF1)	NP_001341618.1:p.Ser662Ala
NM_001354690.2:c.1924T>G (RAF1)	NP_001341619.1:p.Ser642Ala
NM_001354691.2:c.1681T>G (RAF1)	NP_001341620.1:p.Ser561Ala
NM_001354692.2:c.1681T>G (RAF1)	NP_001341621.1:p.Ser561Ala
NM_001354693.2:c.1825T>G (RAF1)	NP_001341622.1:p.Ser609Ala
NM_001354694.2:c.1741T>G (RAF1)	NP_001341623.1:p.Ser581Ala
NM_001354695.2:c.1582T>G (RAF1)	NP_001341624.1:p.Ser528Ala
NR_148940.2:n.2368T>G (RAF1)
NR_148941.2:n.2314T>G (RAF1)
NR_148942.2:n.2253T>G (RAF1)
NM_001354690.3:c.1924T>G (RAF1)	NP_001341619.1:p.Ser642Ala
NM_001354691.3:c.1681T>G (RAF1)	NP_001341620.1:p.Ser561Ala
NM_001354692.3:c.1681T>G (RAF1)	NP_001341621.1:p.Ser561Ala
NM_001354693.3:c.1825T>G (RAF1)	NP_001341622.1:p.Ser609Ala
NM_001354694.3:c.1741T>G (RAF1)	NP_001341623.1:p.Ser581Ala
NM_001354695.3:c.1582T>G (RAF1)	NP_001341624.1:p.Ser528Ala
NM_002880.4:c.1924T>G (RAF1) MANE Select	NP_002871.1:p.Ser642Ala
NR_148940.3:n.2368T>G (RAF1)
NR_148941.3:n.2314T>G (RAF1)
NR_148942.3:n.2253T>G (RAF1)