Canonical Allele Identifier: CA351497018

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626468C>A (hg19) ; chr3:g.12584969C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584969C>A , CM000665.2:g.12584969C>A	GRCh38
NC_000003.11:g.12626468C>A , CM000665.1:g.12626468C>A	GRCh37
NC_000003.10:g.12601468C>A	NCBI36
NG_007467.1:g.84211G>T , LRG_413:g.84211G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1346G>T (RAF1)	ENSP00000401088.1:n.*1346G>T
ENST00000432427.3:c.998G>T (RAF1)
ENST00000460610.2:n.5993G>T (RAF1)
ENST00000471449.2:n.491G>T (RAF1)
ENST00000475353.2:n.3961G>T (RAF1)
ENST00000684903.1:c.*1358G>T (RAF1)	ENSP00000508612.1:n.*1358G>T
ENST00000685348.1:c.*1392G>T (RAF1)	ENSP00000510285.1:n.*1392G>T
ENST00000685437.1:c.1582G>T (RAF1)	ENSP00000508794.1:p.Val528Leu
ENST00000685653.1:c.1681G>T (RAF1)	ENSP00000509968.1:p.Val561Leu
ENST00000685697.1:n.2416G>T (RAF1)
ENST00000685738.1:c.*645G>T (RAF1)	ENSP00000510156.1:n.*645G>T
ENST00000686409.1:n.5090G>T (RAF1)
ENST00000686455.1:n.4402G>T (RAF1)
ENST00000686762.1:c.*240G>T (RAF1)	ENSP00000509767.1:n.*240G>T
ENST00000687257.1:n.4135G>T (RAF1)
ENST00000687326.1:c.*2973G>T (RAF1)	ENSP00000509665.1:n.*2973G>T
ENST00000687505.1:n.1799G>T (RAF1)
ENST00000687923.1:c.1570G>T (RAF1)	ENSP00000510255.1:p.Val524Leu
ENST00000688269.1:n.2277G>T (RAF1)
ENST00000688444.1:n.3798G>T (RAF1)
ENST00000688543.1:c.1582G>T (RAF1)	ENSP00000509612.1:p.Val528Leu
ENST00000688625.1:c.*3050G>T (RAF1)	ENSP00000509522.1:n.*3050G>T
ENST00000688803.1:n.3109G>T (RAF1)
ENST00000688914.1:n.1094G>T (RAF1)
ENST00000689097.1:c.*1358G>T (RAF1)	ENSP00000509756.1:n.*1358G>T
ENST00000689389.1:c.1504G>T (RAF1)	ENSP00000510213.1:p.Val502Leu
ENST00000689418.1:c.*3576G>T (RAF1)	ENSP00000509467.1:n.*3576G>T
ENST00000689540.1:n.4049G>T (RAF1)
ENST00000689876.1:c.*230G>T (RAF1)	ENSP00000508535.1:n.*230G>T
ENST00000689914.1:c.*615G>T (RAF1)	ENSP00000509847.1:n.*615G>T
ENST00000690397.1:c.1570G>T (RAF1)	ENSP00000508730.1:p.Val524Leu
ENST00000690460.1:c.1669G>T (RAF1)	ENSP00000509106.1:p.Val557Leu
ENST00000690585.1:c.407G>T (RAF1)
ENST00000690625.1:n.2717G>T (RAF1)
ENST00000691396.1:c.*1553G>T (RAF1)	ENSP00000510712.1:n.*1553G>T
ENST00000691643.1:n.2734G>T (RAF1)
ENST00000691724.1:c.*638G>T (RAF1)	ENSP00000509255.1:n.*638G>T
ENST00000691779.1:c.*1259G>T (RAF1)	ENSP00000508592.1:n.*1259G>T
ENST00000691888.1:c.555G>T (RAF1)
ENST00000691899.1:c.1681G>T (RAF1)	ENSP00000508763.1:p.Val561Leu
ENST00000692069.1:n.4605G>T (RAF1)
ENST00000692093.1:c.1582G>T (RAF1)	ENSP00000509669.1:p.Val528Leu
ENST00000692311.1:n.2505G>T (RAF1)
ENST00000692558.1:n.4264G>T (RAF1)
ENST00000692773.1:c.*1418G>T (RAF1)	ENSP00000509055.1:n.*1418G>T
ENST00000692830.1:c.*1426G>T (RAF1)	ENSP00000509461.1:n.*1426G>T
ENST00000693312.1:c.1456G>T (RAF1)	ENSP00000508686.1:p.Val486Leu
ENST00000693664.1:c.*132G>T (RAF1)	ENSP00000509614.1:n.*132G>T
ENST00000693705.1:c.*1060G>T (RAF1)	ENSP00000510697.1:n.*1060G>T
ENST00000251849.9:c.1681G>T (RAF1) MANE Select	ENSP00000251849.4:p.Val561Leu
ENST00000442415.7:c.1741G>T (RAF1)	ENSP00000401888.2:p.Val581Leu
ENST00000676541.1:c.*2716C>A (MKRN2)	ENSP00000503730.1:n.*2716C>A
ENST00000677142.1:c.*2716C>A (MKRN2)	ENSP00000504455.1:n.*2716C>A
ENST00000677816.1:c.*1271C>A (MKRN2)	ENSP00000502893.1:n.*1271C>A
ENST00000677941.1:n.2779C>A (MKRN2)
ENST00000251849.8:c.1681G>T (RAF1)	ENSP00000251849.4:p.Val561Leu
ENST00000423275.5:c.*1358G>T (RAF1)	ENSP00000401088.1:n.*1358G>T
ENST00000432427.2:c.1318G>T (RAF1)	ENSP00000398591.2:p.Val440Leu
ENST00000442415.6:c.1741G>T (RAF1)	ENSP00000401888.2:p.Val581Leu
ENST00000471449.1:n.370G>T (RAF1)
NM_002880.3:c.1681G>T , LRG_413t1:c.1681G>T (RAF1)	NP_002871.1:p.Val561Leu
XM_005265355.1:c.1681G>T (RAF1)	XP_005265412.1:p.Val561Leu
XM_005265357.1:c.1582G>T (RAF1)	XP_005265414.1:p.Val528Leu
XM_005265358.3:c.1438G>T (RAF1)	XP_005265415.1:p.Val480Leu
XM_005265359.3:c.1339G>T (RAF1)	XP_005265416.1:p.Val447Leu
XM_011533974.1:c.1681G>T (RAF1)	XP_011532276.1:p.Val561Leu
XM_011533975.1:c.1438G>T (RAF1)	XP_011532277.1:p.Val480Leu
NM_001354689.1:c.1741G>T (RAF1)	NP_001341618.1:p.Val581Leu
NM_001354690.1:c.1681G>T (RAF1)	NP_001341619.1:p.Val561Leu
NM_001354691.1:c.1438G>T (RAF1)	NP_001341620.1:p.Val480Leu
NM_001354692.1:c.1438G>T (RAF1)	NP_001341621.1:p.Val480Leu
NM_001354693.1:c.1582G>T (RAF1)	NP_001341622.1:p.Val528Leu
NM_001354694.1:c.1498G>T (RAF1)	NP_001341623.1:p.Val500Leu
NM_001354695.1:c.1339G>T (RAF1)	NP_001341624.1:p.Val447Leu
NR_148940.1:n.2209G>T (RAF1)
NR_148941.1:n.2155G>T (RAF1)
NR_148942.1:n.2094G>T (RAF1)
XM_011533974.3:c.1681G>T (RAF1)	XP_011532276.1:p.Val561Leu
XM_017006966.1:c.1582G>T (RAF1)	XP_016862455.1:p.Val528Leu
NM_001354689.3:c.1741G>T (RAF1)	NP_001341618.1:p.Val581Leu
NM_001354690.2:c.1681G>T (RAF1)	NP_001341619.1:p.Val561Leu
NM_001354691.2:c.1438G>T (RAF1)	NP_001341620.1:p.Val480Leu
NM_001354692.2:c.1438G>T (RAF1)	NP_001341621.1:p.Val480Leu
NM_001354693.2:c.1582G>T (RAF1)	NP_001341622.1:p.Val528Leu
NM_001354694.2:c.1498G>T (RAF1)	NP_001341623.1:p.Val500Leu
NM_001354695.2:c.1339G>T (RAF1)	NP_001341624.1:p.Val447Leu
NR_148940.2:n.2125G>T (RAF1)
NR_148941.2:n.2071G>T (RAF1)
NR_148942.2:n.2010G>T (RAF1)
NM_001354690.3:c.1681G>T (RAF1)	NP_001341619.1:p.Val561Leu
NM_001354691.3:c.1438G>T (RAF1)	NP_001341620.1:p.Val480Leu
NM_001354692.3:c.1438G>T (RAF1)	NP_001341621.1:p.Val480Leu
NM_001354693.3:c.1582G>T (RAF1)	NP_001341622.1:p.Val528Leu
NM_001354694.3:c.1498G>T (RAF1)	NP_001341623.1:p.Val500Leu
NM_001354695.3:c.1339G>T (RAF1)	NP_001341624.1:p.Val447Leu
NM_002880.4:c.1681G>T (RAF1) MANE Select	NP_002871.1:p.Val561Leu
NR_148940.3:n.2125G>T (RAF1)
NR_148941.3:n.2071G>T (RAF1)
NR_148942.3:n.2010G>T (RAF1)