Canonical Allele Identifier: CA351495591

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs769639669
• MyVariant Identifiers: chr3:g.12626050C>G (hg19) ; chr3:g.12584551C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584551C>G , CM000665.2:g.12584551C>G	GRCh38
NC_000003.11:g.12626050C>G , CM000665.1:g.12626050C>G	GRCh37
NC_000003.10:g.12601050C>G	NCBI36
NG_007467.1:g.84629G>C , LRG_413:g.84629G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1575G>C (RAF1)	ENSP00000401088.1:n.*1575G>C
ENST00000432427.3:c.1227G>C (RAF1)
ENST00000460610.2:n.6222G>C (RAF1)
ENST00000471449.2:n.720G>C (RAF1)
ENST00000475353.2:n.4190G>C (RAF1)
ENST00000684903.1:c.*1587G>C (RAF1)	ENSP00000508612.1:n.*1587G>C
ENST00000685348.1:c.*1621G>C (RAF1)	ENSP00000510285.1:n.*1621G>C
ENST00000685437.1:c.1811G>C (RAF1)	ENSP00000508794.1:p.Cys604Ser
ENST00000685653.1:c.1910G>C (RAF1)	ENSP00000509968.1:p.Cys637Ser
ENST00000685697.1:n.2645G>C (RAF1)
ENST00000685738.1:c.*874G>C (RAF1)	ENSP00000510156.1:n.*874G>C
ENST00000686409.1:n.5319G>C (RAF1)
ENST00000686455.1:n.4631G>C (RAF1)
ENST00000686762.1:c.*469G>C (RAF1)	ENSP00000509767.1:n.*469G>C
ENST00000687257.1:n.4364G>C (RAF1)
ENST00000687326.1:c.*3202G>C (RAF1)	ENSP00000509665.1:n.*3202G>C
ENST00000687505.1:n.2028G>C (RAF1)
ENST00000687923.1:c.1799G>C (RAF1)	ENSP00000510255.1:p.Cys600Ser
ENST00000688269.1:n.2506G>C (RAF1)
ENST00000688444.1:n.4027G>C (RAF1)
ENST00000688543.1:c.1811G>C (RAF1)	ENSP00000509612.1:p.Cys604Ser
ENST00000688625.1:c.*3279G>C (RAF1)	ENSP00000509522.1:n.*3279G>C
ENST00000688803.1:n.3338G>C (RAF1)
ENST00000689097.1:c.*1587G>C (RAF1)	ENSP00000509756.1:n.*1587G>C
ENST00000689389.1:c.1733G>C (RAF1)	ENSP00000510213.1:p.Cys578Ser
ENST00000689418.1:c.*3805G>C (RAF1)	ENSP00000509467.1:n.*3805G>C
ENST00000689540.1:n.4278G>C (RAF1)
ENST00000689876.1:c.*459G>C (RAF1)	ENSP00000508535.1:n.*459G>C
ENST00000689914.1:c.*844G>C (RAF1)	ENSP00000509847.1:n.*844G>C
ENST00000690397.1:c.1799G>C (RAF1)	ENSP00000508730.1:p.Cys600Ser
ENST00000690460.1:c.1898G>C (RAF1)	ENSP00000509106.1:p.Cys633Ser
ENST00000690585.1:c.636G>C (RAF1)
ENST00000690625.1:n.2946G>C (RAF1)
ENST00000691396.1:c.*1782G>C (RAF1)	ENSP00000510712.1:n.*1782G>C
ENST00000691643.1:n.2963G>C (RAF1)
ENST00000691724.1:c.*867G>C (RAF1)	ENSP00000509255.1:n.*867G>C
ENST00000691779.1:c.*1488G>C (RAF1)	ENSP00000508592.1:n.*1488G>C
ENST00000691888.1:c.784G>C (RAF1)
ENST00000691899.1:c.1910G>C (RAF1)	ENSP00000508763.1:p.Cys637Ser
ENST00000692069.1:n.4834G>C (RAF1)
ENST00000692093.1:c.1811G>C (RAF1)	ENSP00000509669.1:p.Cys604Ser
ENST00000692311.1:n.2734G>C (RAF1)
ENST00000692558.1:n.4493G>C (RAF1)
ENST00000692773.1:c.*1647G>C (RAF1)	ENSP00000509055.1:n.*1647G>C
ENST00000692830.1:c.*1655G>C (RAF1)	ENSP00000509461.1:n.*1655G>C
ENST00000693312.1:c.1685G>C (RAF1)	ENSP00000508686.1:p.Cys562Ser
ENST00000693664.1:c.*361G>C (RAF1)	ENSP00000509614.1:n.*361G>C
ENST00000693705.1:c.*1289G>C (RAF1)	ENSP00000510697.1:n.*1289G>C
ENST00000251849.9:c.1910G>C (RAF1) MANE Select	ENSP00000251849.4:p.Cys637Ser
ENST00000442415.7:c.1970G>C (RAF1)	ENSP00000401888.2:p.Cys657Ser
ENST00000676541.1:c.*2298C>G (MKRN2)	ENSP00000503730.1:n.*2298C>G
ENST00000677142.1:c.*2298C>G (MKRN2)	ENSP00000504455.1:n.*2298C>G
ENST00000677816.1:c.*853C>G (MKRN2)	ENSP00000502893.1:n.*853C>G
ENST00000677941.1:n.2361C>G (MKRN2)
ENST00000251849.8:c.1910G>C (RAF1)	ENSP00000251849.4:p.Cys637Ser
ENST00000423275.5:c.*1587G>C (RAF1)	ENSP00000401088.1:n.*1587G>C
ENST00000432427.2:c.1547G>C (RAF1)	ENSP00000398591.2:p.Cys516Ser
ENST00000442415.6:c.1970G>C (RAF1)	ENSP00000401888.2:p.Cys657Ser
ENST00000471449.1:n.599G>C (RAF1)
NM_002880.3:c.1910G>C , LRG_413t1:c.1910G>C (RAF1)	NP_002871.1:p.Cys637Ser
XM_005265355.1:c.1910G>C (RAF1)	XP_005265412.1:p.Cys637Ser
XM_005265357.1:c.1811G>C (RAF1)	XP_005265414.1:p.Cys604Ser
XM_005265358.3:c.1667G>C (RAF1)	XP_005265415.1:p.Cys556Ser
XM_005265359.3:c.1568G>C (RAF1)	XP_005265416.1:p.Cys523Ser
XM_011533974.1:c.1910G>C (RAF1)	XP_011532276.1:p.Cys637Ser
XM_011533975.1:c.1667G>C (RAF1)	XP_011532277.1:p.Cys556Ser
NM_001354689.1:c.1970G>C (RAF1)	NP_001341618.1:p.Cys657Ser
NM_001354690.1:c.1910G>C (RAF1)	NP_001341619.1:p.Cys637Ser
NM_001354691.1:c.1667G>C (RAF1)	NP_001341620.1:p.Cys556Ser
NM_001354692.1:c.1667G>C (RAF1)	NP_001341621.1:p.Cys556Ser
NM_001354693.1:c.1811G>C (RAF1)	NP_001341622.1:p.Cys604Ser
NM_001354694.1:c.1727G>C (RAF1)	NP_001341623.1:p.Cys576Ser
NM_001354695.1:c.1568G>C (RAF1)	NP_001341624.1:p.Cys523Ser
NR_148940.1:n.2438G>C (RAF1)
NR_148941.1:n.2384G>C (RAF1)
NR_148942.1:n.2323G>C (RAF1)
XM_011533974.3:c.1910G>C (RAF1)	XP_011532276.1:p.Cys637Ser
XM_017006966.1:c.1811G>C (RAF1)	XP_016862455.1:p.Cys604Ser
NM_001354689.3:c.1970G>C (RAF1)	NP_001341618.1:p.Cys657Ser
NM_001354690.2:c.1910G>C (RAF1)	NP_001341619.1:p.Cys637Ser
NM_001354691.2:c.1667G>C (RAF1)	NP_001341620.1:p.Cys556Ser
NM_001354692.2:c.1667G>C (RAF1)	NP_001341621.1:p.Cys556Ser
NM_001354693.2:c.1811G>C (RAF1)	NP_001341622.1:p.Cys604Ser
NM_001354694.2:c.1727G>C (RAF1)	NP_001341623.1:p.Cys576Ser
NM_001354695.2:c.1568G>C (RAF1)	NP_001341624.1:p.Cys523Ser
NR_148940.2:n.2354G>C (RAF1)
NR_148941.2:n.2300G>C (RAF1)
NR_148942.2:n.2239G>C (RAF1)
NM_001354690.3:c.1910G>C (RAF1)	NP_001341619.1:p.Cys637Ser
NM_001354691.3:c.1667G>C (RAF1)	NP_001341620.1:p.Cys556Ser
NM_001354692.3:c.1667G>C (RAF1)	NP_001341621.1:p.Cys556Ser
NM_001354693.3:c.1811G>C (RAF1)	NP_001341622.1:p.Cys604Ser
NM_001354694.3:c.1727G>C (RAF1)	NP_001341623.1:p.Cys576Ser
NM_001354695.3:c.1568G>C (RAF1)	NP_001341624.1:p.Cys523Ser
NM_002880.4:c.1910G>C (RAF1) MANE Select	NP_002871.1:p.Cys637Ser
NR_148940.3:n.2354G>C (RAF1)
NR_148941.3:n.2300G>C (RAF1)
NR_148942.3:n.2239G>C (RAF1)