Canonical Allele Identifier: CA351498768

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125325450
• MyVariant Identifiers: chr3:g.12627183C>G (hg19) ; chr3:g.12585684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585684C>G , CM000665.2:g.12585684C>G	GRCh38
NC_000003.11:g.12627183C>G , CM000665.1:g.12627183C>G	GRCh37
NC_000003.10:g.12602183C>G	NCBI36
NG_007467.1:g.83496G>C , LRG_413:g.83496G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1198G>C (RAF1)	ENSP00000401088.1:n.*1198G>C
ENST00000432427.3:c.850G>C (RAF1)
ENST00000460610.2:n.5278G>C (RAF1)
ENST00000471449.2:n.343G>C (RAF1)
ENST00000475353.2:n.3246G>C (RAF1)
ENST00000684903.1:c.*1210G>C (RAF1)	ENSP00000508612.1:n.*1210G>C
ENST00000685348.1:c.*1095-278G>C (RAF1)	ENSP00000510285.1:n.*1095-278G>C
ENST00000685437.1:c.1434G>C (RAF1)	ENSP00000508794.1:p.Trp478Cys
ENST00000685653.1:c.1533G>C (RAF1)	ENSP00000509968.1:p.Trp511Cys
ENST00000685697.1:n.2268G>C (RAF1)
ENST00000685738.1:c.*497G>C (RAF1)	ENSP00000510156.1:n.*497G>C
ENST00000686409.1:n.4375G>C (RAF1)
ENST00000686455.1:n.3687G>C (RAF1)
ENST00000686762.1:c.*92G>C (RAF1)	ENSP00000509767.1:n.*92G>C
ENST00000687257.1:n.3560G>C (RAF1)
ENST00000687326.1:c.*2258G>C (RAF1)	ENSP00000509665.1:n.*2258G>C
ENST00000687505.1:n.1651G>C (RAF1)
ENST00000687923.1:c.1422G>C (RAF1)	ENSP00000510255.1:p.Trp474Cys
ENST00000688269.1:n.2129G>C (RAF1)
ENST00000688444.1:n.3650G>C (RAF1)
ENST00000688543.1:c.1434G>C (RAF1)	ENSP00000509612.1:p.Trp478Cys
ENST00000688625.1:c.*2902G>C (RAF1)	ENSP00000509522.1:n.*2902G>C
ENST00000688803.1:n.2965-431G>C (RAF1)
ENST00000688914.1:n.519G>C (RAF1)
ENST00000689097.1:c.*1210G>C (RAF1)	ENSP00000509756.1:n.*1210G>C
ENST00000689389.1:c.1356G>C (RAF1)	ENSP00000510213.1:p.Trp452Cys
ENST00000689418.1:c.*3001G>C (RAF1)	ENSP00000509467.1:n.*3001G>C
ENST00000689540.1:n.3474G>C (RAF1)
ENST00000689876.1:c.1418-278G>C (RAF1)	ENSP00000508535.1:n.1418-278G>C
ENST00000689914.1:c.*467G>C (RAF1)	ENSP00000509847.1:n.*467G>C
ENST00000690397.1:c.1422G>C (RAF1)	ENSP00000508730.1:p.Trp474Cys
ENST00000690460.1:c.1521G>C (RAF1)	ENSP00000509106.1:p.Trp507Cys
ENST00000690585.1:c.263-431G>C (RAF1)
ENST00000690625.1:n.2569G>C (RAF1)
ENST00000691396.1:c.*1405G>C (RAF1)	ENSP00000510712.1:n.*1405G>C
ENST00000691643.1:n.2159G>C (RAF1)
ENST00000691724.1:c.*490G>C (RAF1)	ENSP00000509255.1:n.*490G>C
ENST00000691779.1:c.*1111G>C (RAF1)	ENSP00000508592.1:n.*1111G>C
ENST00000691888.1:c.407G>C (RAF1)
ENST00000691899.1:c.1533G>C (RAF1)	ENSP00000508763.1:p.Trp511Cys
ENST00000692069.1:n.3890G>C (RAF1)
ENST00000692093.1:c.1434G>C (RAF1)	ENSP00000509669.1:p.Trp478Cys
ENST00000692311.1:n.2357G>C (RAF1)
ENST00000692558.1:n.3689G>C (RAF1)
ENST00000692773.1:c.*1270G>C (RAF1)	ENSP00000509055.1:n.*1270G>C
ENST00000692830.1:c.*1278G>C (RAF1)	ENSP00000509461.1:n.*1278G>C
ENST00000693312.1:c.1308G>C (RAF1)	ENSP00000508686.1:p.Trp436Cys
ENST00000693664.1:c.1488-431G>C (RAF1)	ENSP00000509614.1:n.1488-431G>C
ENST00000693705.1:c.*1048-703G>C (RAF1)	ENSP00000510697.1:n.*1048-703G>C
ENST00000251849.9:c.1533G>C (RAF1) MANE Select	ENSP00000251849.4:p.Trp511Cys
ENST00000442415.7:c.1593G>C (RAF1)	ENSP00000401888.2:p.Trp531Cys
ENST00000676541.1:c.*3431C>G (MKRN2)	ENSP00000503730.1:n.*3431C>G
ENST00000677142.1:c.*3431C>G (MKRN2)	ENSP00000504455.1:n.*3431C>G
ENST00000677816.1:c.*1986C>G (MKRN2)	ENSP00000502893.1:n.*1986C>G
ENST00000677941.1:n.3494C>G (MKRN2)
ENST00000251849.8:c.1533G>C (RAF1)	ENSP00000251849.4:p.Trp511Cys
ENST00000423275.5:c.*1210G>C (RAF1)	ENSP00000401088.1:n.*1210G>C
ENST00000432427.2:c.1170G>C (RAF1)	ENSP00000398591.2:p.Trp390Cys
ENST00000442415.6:c.1593G>C (RAF1)	ENSP00000401888.2:p.Trp531Cys
ENST00000471449.1:n.222G>C (RAF1)
NM_002880.3:c.1533G>C , LRG_413t1:c.1533G>C (RAF1)	NP_002871.1:p.Trp511Cys
XM_005265355.1:c.1533G>C (RAF1)	XP_005265412.1:p.Trp511Cys
XM_005265357.1:c.1434G>C (RAF1)	XP_005265414.1:p.Trp478Cys
XM_005265358.3:c.1290G>C (RAF1)	XP_005265415.1:p.Trp430Cys
XM_005265359.3:c.1191G>C (RAF1)	XP_005265416.1:p.Trp397Cys
XM_005265360.1:c.1418-278G>C (RAF1)	XP_005265417.1:n.1418-278G>C
XM_011533974.1:c.1533G>C (RAF1)	XP_011532276.1:p.Trp511Cys
XM_011533975.1:c.1290G>C (RAF1)	XP_011532277.1:p.Trp430Cys
NM_001354689.1:c.1593G>C (RAF1)	NP_001341618.1:p.Trp531Cys
NM_001354690.1:c.1533G>C (RAF1)	NP_001341619.1:p.Trp511Cys
NM_001354691.1:c.1290G>C (RAF1)	NP_001341620.1:p.Trp430Cys
NM_001354692.1:c.1290G>C (RAF1)	NP_001341621.1:p.Trp430Cys
NM_001354693.1:c.1434G>C (RAF1)	NP_001341622.1:p.Trp478Cys
NM_001354694.1:c.1350G>C (RAF1)	NP_001341623.1:p.Trp450Cys
NM_001354695.1:c.1191G>C (RAF1)	NP_001341624.1:p.Trp397Cys
NR_148940.1:n.2061G>C (RAF1)
NR_148941.1:n.2007G>C (RAF1)
NR_148942.1:n.1946G>C (RAF1)
XM_011533974.3:c.1533G>C (RAF1)	XP_011532276.1:p.Trp511Cys
XM_017006966.1:c.1434G>C (RAF1)	XP_016862455.1:p.Trp478Cys
NM_001354689.3:c.1593G>C (RAF1)	NP_001341618.1:p.Trp531Cys
NM_001354690.2:c.1533G>C (RAF1)	NP_001341619.1:p.Trp511Cys
NM_001354691.2:c.1290G>C (RAF1)	NP_001341620.1:p.Trp430Cys
NM_001354692.2:c.1290G>C (RAF1)	NP_001341621.1:p.Trp430Cys
NM_001354693.2:c.1434G>C (RAF1)	NP_001341622.1:p.Trp478Cys
NM_001354694.2:c.1350G>C (RAF1)	NP_001341623.1:p.Trp450Cys
NM_001354695.2:c.1191G>C (RAF1)	NP_001341624.1:p.Trp397Cys
NR_148940.2:n.1977G>C (RAF1)
NR_148941.2:n.1923G>C (RAF1)
NR_148942.2:n.1862G>C (RAF1)
NM_001354690.3:c.1533G>C (RAF1)	NP_001341619.1:p.Trp511Cys
NM_001354691.3:c.1290G>C (RAF1)	NP_001341620.1:p.Trp430Cys
NM_001354692.3:c.1290G>C (RAF1)	NP_001341621.1:p.Trp430Cys
NM_001354693.3:c.1434G>C (RAF1)	NP_001341622.1:p.Trp478Cys
NM_001354694.3:c.1350G>C (RAF1)	NP_001341623.1:p.Trp450Cys
NM_001354695.3:c.1191G>C (RAF1)	NP_001341624.1:p.Trp397Cys
NM_002880.4:c.1533G>C (RAF1) MANE Select	NP_002871.1:p.Trp511Cys
NR_148940.3:n.1977G>C (RAF1)
NR_148941.3:n.1923G>C (RAF1)
NR_148942.3:n.1862G>C (RAF1)