Canonical Allele Identifier: CA351499026

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125325924
• MyVariant Identifiers: chr3:g.12627225A>C (hg19) ; chr3:g.12585726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585726A>C , CM000665.2:g.12585726A>C	GRCh38
NC_000003.11:g.12627225A>C , CM000665.1:g.12627225A>C	GRCh37
NC_000003.10:g.12602225A>C	NCBI36
NG_007467.1:g.83454T>G , LRG_413:g.83454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1156T>G (RAF1)	ENSP00000401088.1:n.*1156T>G
ENST00000432427.3:c.808T>G (RAF1)
ENST00000460610.2:n.5236T>G (RAF1)
ENST00000471449.2:n.301T>G (RAF1)
ENST00000475353.2:n.3204T>G (RAF1)
ENST00000684903.1:c.*1168T>G (RAF1)	ENSP00000508612.1:n.*1168T>G
ENST00000685348.1:c.*1095-320T>G (RAF1)	ENSP00000510285.1:n.*1095-320T>G
ENST00000685437.1:c.1392T>G (RAF1)	ENSP00000508794.1:p.Ser464Arg
ENST00000685653.1:c.1491T>G (RAF1)	ENSP00000509968.1:p.Ser497Arg
ENST00000685697.1:n.2226T>G (RAF1)
ENST00000685738.1:c.*455T>G (RAF1)	ENSP00000510156.1:n.*455T>G
ENST00000686409.1:n.4333T>G (RAF1)
ENST00000686455.1:n.3645T>G (RAF1)
ENST00000686762.1:c.*50T>G (RAF1)	ENSP00000509767.1:n.*50T>G
ENST00000687257.1:n.3518T>G (RAF1)
ENST00000687326.1:c.*2216T>G (RAF1)	ENSP00000509665.1:n.*2216T>G
ENST00000687505.1:n.1609T>G (RAF1)
ENST00000687923.1:c.1380T>G (RAF1)	ENSP00000510255.1:p.Ser460Arg
ENST00000688269.1:n.2087T>G (RAF1)
ENST00000688444.1:n.3608T>G (RAF1)
ENST00000688543.1:c.1392T>G (RAF1)	ENSP00000509612.1:p.Ser464Arg
ENST00000688625.1:c.*2860T>G (RAF1)	ENSP00000509522.1:n.*2860T>G
ENST00000688803.1:n.2965-473T>G (RAF1)
ENST00000688914.1:n.477T>G (RAF1)
ENST00000689097.1:c.*1168T>G (RAF1)	ENSP00000509756.1:n.*1168T>G
ENST00000689389.1:c.1314T>G (RAF1)	ENSP00000510213.1:p.Ser438Arg
ENST00000689418.1:c.*2959T>G (RAF1)	ENSP00000509467.1:n.*2959T>G
ENST00000689540.1:n.3432T>G (RAF1)
ENST00000689876.1:c.1418-320T>G (RAF1)	ENSP00000508535.1:n.1418-320T>G
ENST00000689914.1:c.*425T>G (RAF1)	ENSP00000509847.1:n.*425T>G
ENST00000690397.1:c.1380T>G (RAF1)	ENSP00000508730.1:p.Ser460Arg
ENST00000690460.1:c.1479T>G (RAF1)	ENSP00000509106.1:p.Ser493Arg
ENST00000690585.1:c.263-473T>G (RAF1)
ENST00000690625.1:n.2527T>G (RAF1)
ENST00000691396.1:c.*1363T>G (RAF1)	ENSP00000510712.1:n.*1363T>G
ENST00000691643.1:n.2117T>G (RAF1)
ENST00000691724.1:c.*448T>G (RAF1)	ENSP00000509255.1:n.*448T>G
ENST00000691779.1:c.*1069T>G (RAF1)	ENSP00000508592.1:n.*1069T>G
ENST00000691888.1:c.365T>G (RAF1)
ENST00000691899.1:c.1491T>G (RAF1)	ENSP00000508763.1:p.Ser497Arg
ENST00000692069.1:n.3848T>G (RAF1)
ENST00000692093.1:c.1392T>G (RAF1)	ENSP00000509669.1:p.Ser464Arg
ENST00000692311.1:n.2315T>G (RAF1)
ENST00000692558.1:n.3647T>G (RAF1)
ENST00000692773.1:c.*1228T>G (RAF1)	ENSP00000509055.1:n.*1228T>G
ENST00000692830.1:c.*1236T>G (RAF1)	ENSP00000509461.1:n.*1236T>G
ENST00000693312.1:c.1266T>G (RAF1)	ENSP00000508686.1:p.Ser422Arg
ENST00000693664.1:c.1488-473T>G (RAF1)	ENSP00000509614.1:n.1488-473T>G
ENST00000693705.1:c.*1048-745T>G (RAF1)	ENSP00000510697.1:n.*1048-745T>G
ENST00000251849.9:c.1491T>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser497Arg
ENST00000442415.7:c.1551T>G (RAF1)	ENSP00000401888.2:p.Ser517Arg
ENST00000676541.1:c.*3473A>C (MKRN2)	ENSP00000503730.1:n.*3473A>C
ENST00000677142.1:c.*3473A>C (MKRN2)	ENSP00000504455.1:n.*3473A>C
ENST00000677816.1:c.*2028A>C (MKRN2)	ENSP00000502893.1:n.*2028A>C
ENST00000677941.1:n.3536A>C (MKRN2)
ENST00000251849.8:c.1491T>G (RAF1)	ENSP00000251849.4:p.Ser497Arg
ENST00000423275.5:c.*1168T>G (RAF1)	ENSP00000401088.1:n.*1168T>G
ENST00000432427.2:c.1128T>G (RAF1)	ENSP00000398591.2:p.Ser376Arg
ENST00000442415.6:c.1551T>G (RAF1)	ENSP00000401888.2:p.Ser517Arg
ENST00000471449.1:n.180T>G (RAF1)
NM_002880.3:c.1491T>G , LRG_413t1:c.1491T>G (RAF1)	NP_002871.1:p.Ser497Arg
XM_005265355.1:c.1491T>G (RAF1)	XP_005265412.1:p.Ser497Arg
XM_005265357.1:c.1392T>G (RAF1)	XP_005265414.1:p.Ser464Arg
XM_005265358.3:c.1248T>G (RAF1)	XP_005265415.1:p.Ser416Arg
XM_005265359.3:c.1149T>G (RAF1)	XP_005265416.1:p.Ser383Arg
XM_005265360.1:c.1418-320T>G (RAF1)	XP_005265417.1:n.1418-320T>G
XM_011533974.1:c.1491T>G (RAF1)	XP_011532276.1:p.Ser497Arg
XM_011533975.1:c.1248T>G (RAF1)	XP_011532277.1:p.Ser416Arg
NM_001354689.1:c.1551T>G (RAF1)	NP_001341618.1:p.Ser517Arg
NM_001354690.1:c.1491T>G (RAF1)	NP_001341619.1:p.Ser497Arg
NM_001354691.1:c.1248T>G (RAF1)	NP_001341620.1:p.Ser416Arg
NM_001354692.1:c.1248T>G (RAF1)	NP_001341621.1:p.Ser416Arg
NM_001354693.1:c.1392T>G (RAF1)	NP_001341622.1:p.Ser464Arg
NM_001354694.1:c.1308T>G (RAF1)	NP_001341623.1:p.Ser436Arg
NM_001354695.1:c.1149T>G (RAF1)	NP_001341624.1:p.Ser383Arg
NR_148940.1:n.2019T>G (RAF1)
NR_148941.1:n.1965T>G (RAF1)
NR_148942.1:n.1904T>G (RAF1)
XM_011533974.3:c.1491T>G (RAF1)	XP_011532276.1:p.Ser497Arg
XM_017006966.1:c.1392T>G (RAF1)	XP_016862455.1:p.Ser464Arg
NM_001354689.3:c.1551T>G (RAF1)	NP_001341618.1:p.Ser517Arg
NM_001354690.2:c.1491T>G (RAF1)	NP_001341619.1:p.Ser497Arg
NM_001354691.2:c.1248T>G (RAF1)	NP_001341620.1:p.Ser416Arg
NM_001354692.2:c.1248T>G (RAF1)	NP_001341621.1:p.Ser416Arg
NM_001354693.2:c.1392T>G (RAF1)	NP_001341622.1:p.Ser464Arg
NM_001354694.2:c.1308T>G (RAF1)	NP_001341623.1:p.Ser436Arg
NM_001354695.2:c.1149T>G (RAF1)	NP_001341624.1:p.Ser383Arg
NR_148940.2:n.1935T>G (RAF1)
NR_148941.2:n.1881T>G (RAF1)
NR_148942.2:n.1820T>G (RAF1)
NM_001354690.3:c.1491T>G (RAF1)	NP_001341619.1:p.Ser497Arg
NM_001354691.3:c.1248T>G (RAF1)	NP_001341620.1:p.Ser416Arg
NM_001354692.3:c.1248T>G (RAF1)	NP_001341621.1:p.Ser416Arg
NM_001354693.3:c.1392T>G (RAF1)	NP_001341622.1:p.Ser464Arg
NM_001354694.3:c.1308T>G (RAF1)	NP_001341623.1:p.Ser436Arg
NM_001354695.3:c.1149T>G (RAF1)	NP_001341624.1:p.Ser383Arg
NM_002880.4:c.1491T>G (RAF1) MANE Select	NP_002871.1:p.Ser497Arg
NR_148940.3:n.1935T>G (RAF1)
NR_148941.3:n.1881T>G (RAF1)
NR_148942.3:n.1820T>G (RAF1)