Canonical Allele Identifier: CA351496799

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125319739
• MyVariant Identifiers: chr3:g.12626426T>A (hg19) ; chr3:g.12584927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584927T>A , CM000665.2:g.12584927T>A	GRCh38
NC_000003.11:g.12626426T>A , CM000665.1:g.12626426T>A	GRCh37
NC_000003.10:g.12601426T>A	NCBI36
NG_007467.1:g.84253A>T , LRG_413:g.84253A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1388A>T (RAF1)	ENSP00000401088.1:n.*1388A>T
ENST00000432427.3:c.1040A>T (RAF1)
ENST00000460610.2:n.6035A>T (RAF1)
ENST00000471449.2:n.533A>T (RAF1)
ENST00000475353.2:n.4003A>T (RAF1)
ENST00000684903.1:c.*1400A>T (RAF1)	ENSP00000508612.1:n.*1400A>T
ENST00000685348.1:c.*1434A>T (RAF1)	ENSP00000510285.1:n.*1434A>T
ENST00000685437.1:c.1624A>T (RAF1)	ENSP00000508794.1:p.Lys542Ter
ENST00000685653.1:c.1723A>T (RAF1)	ENSP00000509968.1:p.Lys575Ter
ENST00000685697.1:n.2458A>T (RAF1)
ENST00000685738.1:c.*687A>T (RAF1)	ENSP00000510156.1:n.*687A>T
ENST00000686409.1:n.5132A>T (RAF1)
ENST00000686455.1:n.4444A>T (RAF1)
ENST00000686762.1:c.*282A>T (RAF1)	ENSP00000509767.1:n.*282A>T
ENST00000687257.1:n.4177A>T (RAF1)
ENST00000687326.1:c.*3015A>T (RAF1)	ENSP00000509665.1:n.*3015A>T
ENST00000687505.1:n.1841A>T (RAF1)
ENST00000687923.1:c.1612A>T (RAF1)	ENSP00000510255.1:p.Lys538Ter
ENST00000688269.1:n.2319A>T (RAF1)
ENST00000688444.1:n.3840A>T (RAF1)
ENST00000688543.1:c.1624A>T (RAF1)	ENSP00000509612.1:p.Lys542Ter
ENST00000688625.1:c.*3092A>T (RAF1)	ENSP00000509522.1:n.*3092A>T
ENST00000688803.1:n.3151A>T (RAF1)
ENST00000688914.1:n.1136A>T (RAF1)
ENST00000689097.1:c.*1400A>T (RAF1)	ENSP00000509756.1:n.*1400A>T
ENST00000689389.1:c.1546A>T (RAF1)	ENSP00000510213.1:p.Lys516Ter
ENST00000689418.1:c.*3618A>T (RAF1)	ENSP00000509467.1:n.*3618A>T
ENST00000689540.1:n.4091A>T (RAF1)
ENST00000689876.1:c.*272A>T (RAF1)	ENSP00000508535.1:n.*272A>T
ENST00000689914.1:c.*657A>T (RAF1)	ENSP00000509847.1:n.*657A>T
ENST00000690397.1:c.1612A>T (RAF1)	ENSP00000508730.1:p.Lys538Ter
ENST00000690460.1:c.1711A>T (RAF1)	ENSP00000509106.1:p.Lys571Ter
ENST00000690585.1:c.449A>T (RAF1)
ENST00000690625.1:n.2759A>T (RAF1)
ENST00000691396.1:c.*1595A>T (RAF1)	ENSP00000510712.1:n.*1595A>T
ENST00000691643.1:n.2776A>T (RAF1)
ENST00000691724.1:c.*680A>T (RAF1)	ENSP00000509255.1:n.*680A>T
ENST00000691779.1:c.*1301A>T (RAF1)	ENSP00000508592.1:n.*1301A>T
ENST00000691888.1:c.597A>T (RAF1)
ENST00000691899.1:c.1723A>T (RAF1)	ENSP00000508763.1:p.Lys575Ter
ENST00000692069.1:n.4647A>T (RAF1)
ENST00000692093.1:c.1624A>T (RAF1)	ENSP00000509669.1:p.Lys542Ter
ENST00000692311.1:n.2547A>T (RAF1)
ENST00000692558.1:n.4306A>T (RAF1)
ENST00000692773.1:c.*1460A>T (RAF1)	ENSP00000509055.1:n.*1460A>T
ENST00000692830.1:c.*1468A>T (RAF1)	ENSP00000509461.1:n.*1468A>T
ENST00000693312.1:c.1498A>T (RAF1)	ENSP00000508686.1:p.Lys500Ter
ENST00000693664.1:c.*174A>T (RAF1)	ENSP00000509614.1:n.*174A>T
ENST00000693705.1:c.*1102A>T (RAF1)	ENSP00000510697.1:n.*1102A>T
ENST00000251849.9:c.1723A>T (RAF1) MANE Select	ENSP00000251849.4:p.Lys575Ter
ENST00000442415.7:c.1783A>T (RAF1)	ENSP00000401888.2:p.Lys595Ter
ENST00000676541.1:c.*2674T>A (MKRN2)	ENSP00000503730.1:n.*2674T>A
ENST00000677142.1:c.*2674T>A (MKRN2)	ENSP00000504455.1:n.*2674T>A
ENST00000677816.1:c.*1229T>A (MKRN2)	ENSP00000502893.1:n.*1229T>A
ENST00000677941.1:n.2737T>A (MKRN2)
ENST00000251849.8:c.1723A>T (RAF1)	ENSP00000251849.4:p.Lys575Ter
ENST00000423275.5:c.*1400A>T (RAF1)	ENSP00000401088.1:n.*1400A>T
ENST00000432427.2:c.1360A>T (RAF1)	ENSP00000398591.2:p.Lys454Ter
ENST00000442415.6:c.1783A>T (RAF1)	ENSP00000401888.2:p.Lys595Ter
ENST00000471449.1:n.412A>T (RAF1)
NM_002880.3:c.1723A>T , LRG_413t1:c.1723A>T (RAF1)	NP_002871.1:p.Lys575Ter
XM_005265355.1:c.1723A>T (RAF1)	XP_005265412.1:p.Lys575Ter
XM_005265357.1:c.1624A>T (RAF1)	XP_005265414.1:p.Lys542Ter
XM_005265358.3:c.1480A>T (RAF1)	XP_005265415.1:p.Lys494Ter
XM_005265359.3:c.1381A>T (RAF1)	XP_005265416.1:p.Lys461Ter
XM_011533974.1:c.1723A>T (RAF1)	XP_011532276.1:p.Lys575Ter
XM_011533975.1:c.1480A>T (RAF1)	XP_011532277.1:p.Lys494Ter
NM_001354689.1:c.1783A>T (RAF1)	NP_001341618.1:p.Lys595Ter
NM_001354690.1:c.1723A>T (RAF1)	NP_001341619.1:p.Lys575Ter
NM_001354691.1:c.1480A>T (RAF1)	NP_001341620.1:p.Lys494Ter
NM_001354692.1:c.1480A>T (RAF1)	NP_001341621.1:p.Lys494Ter
NM_001354693.1:c.1624A>T (RAF1)	NP_001341622.1:p.Lys542Ter
NM_001354694.1:c.1540A>T (RAF1)	NP_001341623.1:p.Lys514Ter
NM_001354695.1:c.1381A>T (RAF1)	NP_001341624.1:p.Lys461Ter
NR_148940.1:n.2251A>T (RAF1)
NR_148941.1:n.2197A>T (RAF1)
NR_148942.1:n.2136A>T (RAF1)
XM_011533974.3:c.1723A>T (RAF1)	XP_011532276.1:p.Lys575Ter
XM_017006966.1:c.1624A>T (RAF1)	XP_016862455.1:p.Lys542Ter
NM_001354689.3:c.1783A>T (RAF1)	NP_001341618.1:p.Lys595Ter
NM_001354690.2:c.1723A>T (RAF1)	NP_001341619.1:p.Lys575Ter
NM_001354691.2:c.1480A>T (RAF1)	NP_001341620.1:p.Lys494Ter
NM_001354692.2:c.1480A>T (RAF1)	NP_001341621.1:p.Lys494Ter
NM_001354693.2:c.1624A>T (RAF1)	NP_001341622.1:p.Lys542Ter
NM_001354694.2:c.1540A>T (RAF1)	NP_001341623.1:p.Lys514Ter
NM_001354695.2:c.1381A>T (RAF1)	NP_001341624.1:p.Lys461Ter
NR_148940.2:n.2167A>T (RAF1)
NR_148941.2:n.2113A>T (RAF1)
NR_148942.2:n.2052A>T (RAF1)
NM_001354690.3:c.1723A>T (RAF1)	NP_001341619.1:p.Lys575Ter
NM_001354691.3:c.1480A>T (RAF1)	NP_001341620.1:p.Lys494Ter
NM_001354692.3:c.1480A>T (RAF1)	NP_001341621.1:p.Lys494Ter
NM_001354693.3:c.1624A>T (RAF1)	NP_001341622.1:p.Lys542Ter
NM_001354694.3:c.1540A>T (RAF1)	NP_001341623.1:p.Lys514Ter
NM_001354695.3:c.1381A>T (RAF1)	NP_001341624.1:p.Lys461Ter
NM_002880.4:c.1723A>T (RAF1) MANE Select	NP_002871.1:p.Lys575Ter
NR_148940.3:n.2167A>T (RAF1)
NR_148941.3:n.2113A>T (RAF1)
NR_148942.3:n.2052A>T (RAF1)