Canonical Allele Identifier: CA351496541

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125319379
• MyVariant Identifiers: chr3:g.12626371T>C (hg19) ; chr3:g.12584872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584872T>C , CM000665.2:g.12584872T>C	GRCh38
NC_000003.11:g.12626371T>C , CM000665.1:g.12626371T>C	GRCh37
NC_000003.10:g.12601371T>C	NCBI36
NG_007467.1:g.84308A>G , LRG_413:g.84308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1443A>G (RAF1)	ENSP00000401088.1:n.*1443A>G
ENST00000432427.3:c.1095A>G (RAF1)
ENST00000460610.2:n.6090A>G (RAF1)
ENST00000471449.2:n.588A>G (RAF1)
ENST00000475353.2:n.4058A>G (RAF1)
ENST00000684903.1:c.*1455A>G (RAF1)	ENSP00000508612.1:n.*1455A>G
ENST00000685348.1:c.*1489A>G (RAF1)	ENSP00000510285.1:n.*1489A>G
ENST00000685437.1:c.1679A>G (RAF1)	ENSP00000508794.1:p.Lys560Arg
ENST00000685653.1:c.1778A>G (RAF1)	ENSP00000509968.1:p.Lys593Arg
ENST00000685697.1:n.2513A>G (RAF1)
ENST00000685738.1:c.*742A>G (RAF1)	ENSP00000510156.1:n.*742A>G
ENST00000686409.1:n.5187A>G (RAF1)
ENST00000686455.1:n.4499A>G (RAF1)
ENST00000686762.1:c.*337A>G (RAF1)	ENSP00000509767.1:n.*337A>G
ENST00000687257.1:n.4232A>G (RAF1)
ENST00000687326.1:c.*3070A>G (RAF1)	ENSP00000509665.1:n.*3070A>G
ENST00000687505.1:n.1896A>G (RAF1)
ENST00000687923.1:c.1667A>G (RAF1)	ENSP00000510255.1:p.Lys556Arg
ENST00000688269.1:n.2374A>G (RAF1)
ENST00000688444.1:n.3895A>G (RAF1)
ENST00000688543.1:c.1679A>G (RAF1)	ENSP00000509612.1:p.Lys560Arg
ENST00000688625.1:c.*3147A>G (RAF1)	ENSP00000509522.1:n.*3147A>G
ENST00000688803.1:n.3206A>G (RAF1)
ENST00000689097.1:c.*1455A>G (RAF1)	ENSP00000509756.1:n.*1455A>G
ENST00000689389.1:c.1601A>G (RAF1)	ENSP00000510213.1:p.Lys534Arg
ENST00000689418.1:c.*3673A>G (RAF1)	ENSP00000509467.1:n.*3673A>G
ENST00000689540.1:n.4146A>G (RAF1)
ENST00000689876.1:c.*327A>G (RAF1)	ENSP00000508535.1:n.*327A>G
ENST00000689914.1:c.*712A>G (RAF1)	ENSP00000509847.1:n.*712A>G
ENST00000690397.1:c.1667A>G (RAF1)	ENSP00000508730.1:p.Lys556Arg
ENST00000690460.1:c.1766A>G (RAF1)	ENSP00000509106.1:p.Lys589Arg
ENST00000690585.1:c.504A>G (RAF1)
ENST00000690625.1:n.2814A>G (RAF1)
ENST00000691396.1:c.*1650A>G (RAF1)	ENSP00000510712.1:n.*1650A>G
ENST00000691643.1:n.2831A>G (RAF1)
ENST00000691724.1:c.*735A>G (RAF1)	ENSP00000509255.1:n.*735A>G
ENST00000691779.1:c.*1356A>G (RAF1)	ENSP00000508592.1:n.*1356A>G
ENST00000691888.1:c.652A>G (RAF1)
ENST00000691899.1:c.1778A>G (RAF1)	ENSP00000508763.1:p.Lys593Arg
ENST00000692069.1:n.4702A>G (RAF1)
ENST00000692093.1:c.1679A>G (RAF1)	ENSP00000509669.1:p.Lys560Arg
ENST00000692311.1:n.2602A>G (RAF1)
ENST00000692558.1:n.4361A>G (RAF1)
ENST00000692773.1:c.*1515A>G (RAF1)	ENSP00000509055.1:n.*1515A>G
ENST00000692830.1:c.*1523A>G (RAF1)	ENSP00000509461.1:n.*1523A>G
ENST00000693312.1:c.1553A>G (RAF1)	ENSP00000508686.1:p.Lys518Arg
ENST00000693664.1:c.*229A>G (RAF1)	ENSP00000509614.1:n.*229A>G
ENST00000693705.1:c.*1157A>G (RAF1)	ENSP00000510697.1:n.*1157A>G
ENST00000251849.9:c.1778A>G (RAF1) MANE Select	ENSP00000251849.4:p.Lys593Arg
ENST00000442415.7:c.1838A>G (RAF1)	ENSP00000401888.2:p.Lys613Arg
ENST00000676541.1:c.*2619T>C (MKRN2)	ENSP00000503730.1:n.*2619T>C
ENST00000677142.1:c.*2619T>C (MKRN2)	ENSP00000504455.1:n.*2619T>C
ENST00000677816.1:c.*1174T>C (MKRN2)	ENSP00000502893.1:n.*1174T>C
ENST00000677941.1:n.2682T>C (MKRN2)
ENST00000251849.8:c.1778A>G (RAF1)	ENSP00000251849.4:p.Lys593Arg
ENST00000423275.5:c.*1455A>G (RAF1)	ENSP00000401088.1:n.*1455A>G
ENST00000432427.2:c.1415A>G (RAF1)	ENSP00000398591.2:p.Lys472Arg
ENST00000442415.6:c.1838A>G (RAF1)	ENSP00000401888.2:p.Lys613Arg
ENST00000471449.1:n.467A>G (RAF1)
NM_002880.3:c.1778A>G , LRG_413t1:c.1778A>G (RAF1)	NP_002871.1:p.Lys593Arg
XM_005265355.1:c.1778A>G (RAF1)	XP_005265412.1:p.Lys593Arg
XM_005265357.1:c.1679A>G (RAF1)	XP_005265414.1:p.Lys560Arg
XM_005265358.3:c.1535A>G (RAF1)	XP_005265415.1:p.Lys512Arg
XM_005265359.3:c.1436A>G (RAF1)	XP_005265416.1:p.Lys479Arg
XM_011533974.1:c.1778A>G (RAF1)	XP_011532276.1:p.Lys593Arg
XM_011533975.1:c.1535A>G (RAF1)	XP_011532277.1:p.Lys512Arg
NM_001354689.1:c.1838A>G (RAF1)	NP_001341618.1:p.Lys613Arg
NM_001354690.1:c.1778A>G (RAF1)	NP_001341619.1:p.Lys593Arg
NM_001354691.1:c.1535A>G (RAF1)	NP_001341620.1:p.Lys512Arg
NM_001354692.1:c.1535A>G (RAF1)	NP_001341621.1:p.Lys512Arg
NM_001354693.1:c.1679A>G (RAF1)	NP_001341622.1:p.Lys560Arg
NM_001354694.1:c.1595A>G (RAF1)	NP_001341623.1:p.Lys532Arg
NM_001354695.1:c.1436A>G (RAF1)	NP_001341624.1:p.Lys479Arg
NR_148940.1:n.2306A>G (RAF1)
NR_148941.1:n.2252A>G (RAF1)
NR_148942.1:n.2191A>G (RAF1)
XM_011533974.3:c.1778A>G (RAF1)	XP_011532276.1:p.Lys593Arg
XM_017006966.1:c.1679A>G (RAF1)	XP_016862455.1:p.Lys560Arg
NM_001354689.3:c.1838A>G (RAF1)	NP_001341618.1:p.Lys613Arg
NM_001354690.2:c.1778A>G (RAF1)	NP_001341619.1:p.Lys593Arg
NM_001354691.2:c.1535A>G (RAF1)	NP_001341620.1:p.Lys512Arg
NM_001354692.2:c.1535A>G (RAF1)	NP_001341621.1:p.Lys512Arg
NM_001354693.2:c.1679A>G (RAF1)	NP_001341622.1:p.Lys560Arg
NM_001354694.2:c.1595A>G (RAF1)	NP_001341623.1:p.Lys532Arg
NM_001354695.2:c.1436A>G (RAF1)	NP_001341624.1:p.Lys479Arg
NR_148940.2:n.2222A>G (RAF1)
NR_148941.2:n.2168A>G (RAF1)
NR_148942.2:n.2107A>G (RAF1)
NM_001354690.3:c.1778A>G (RAF1)	NP_001341619.1:p.Lys593Arg
NM_001354691.3:c.1535A>G (RAF1)	NP_001341620.1:p.Lys512Arg
NM_001354692.3:c.1535A>G (RAF1)	NP_001341621.1:p.Lys512Arg
NM_001354693.3:c.1679A>G (RAF1)	NP_001341622.1:p.Lys560Arg
NM_001354694.3:c.1595A>G (RAF1)	NP_001341623.1:p.Lys532Arg
NM_001354695.3:c.1436A>G (RAF1)	NP_001341624.1:p.Lys479Arg
NM_002880.4:c.1778A>G (RAF1) MANE Select	NP_002871.1:p.Lys593Arg
NR_148940.3:n.2222A>G (RAF1)
NR_148941.3:n.2168A>G (RAF1)
NR_148942.3:n.2107A>G (RAF1)