Canonical Allele Identifier: CA432522029

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs1185605206
• gnomAD v2: 3-12626412-T-C
• gnomAD v4: 3-12584913-T-C
• MyVariant Identifiers: chr3:g.12626412T>C (hg19) ; chr3:g.12584913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584913T>C , CM000665.2:g.12584913T>C	GRCh38
NC_000003.11:g.12626412T>C , CM000665.1:g.12626412T>C	GRCh37
NC_000003.10:g.12601412T>C	NCBI36
NG_007467.1:g.84267A>G , LRG_413:g.84267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1402A>G (RAF1)	ENSP00000401088.1:n.*1402A>G
ENST00000432427.3:c.1054A>G (RAF1)
ENST00000460610.2:n.6049A>G (RAF1)
ENST00000471449.2:n.547A>G (RAF1)
ENST00000475353.2:n.4017A>G (RAF1)
ENST00000684903.1:c.*1414A>G (RAF1)	ENSP00000508612.1:n.*1414A>G
ENST00000685348.1:c.*1448A>G (RAF1)	ENSP00000510285.1:n.*1448A>G
ENST00000685437.1:c.1638A>G (RAF1)	ENSP00000508794.1:p.Lys546=
ENST00000685653.1:c.1737A>G (RAF1)	ENSP00000509968.1:p.Lys579=
ENST00000685697.1:n.2472A>G (RAF1)
ENST00000685738.1:c.*701A>G (RAF1)	ENSP00000510156.1:n.*701A>G
ENST00000686409.1:n.5146A>G (RAF1)
ENST00000686455.1:n.4458A>G (RAF1)
ENST00000686762.1:c.*296A>G (RAF1)	ENSP00000509767.1:n.*296A>G
ENST00000687257.1:n.4191A>G (RAF1)
ENST00000687326.1:c.*3029A>G (RAF1)	ENSP00000509665.1:n.*3029A>G
ENST00000687505.1:n.1855A>G (RAF1)
ENST00000687923.1:c.1626A>G (RAF1)	ENSP00000510255.1:p.Lys542=
ENST00000688269.1:n.2333A>G (RAF1)
ENST00000688444.1:n.3854A>G (RAF1)
ENST00000688543.1:c.1638A>G (RAF1)	ENSP00000509612.1:p.Lys546=
ENST00000688625.1:c.*3106A>G (RAF1)	ENSP00000509522.1:n.*3106A>G
ENST00000688803.1:n.3165A>G (RAF1)
ENST00000688914.1:n.1150A>G (RAF1)
ENST00000689097.1:c.*1414A>G (RAF1)	ENSP00000509756.1:n.*1414A>G
ENST00000689389.1:c.1560A>G (RAF1)	ENSP00000510213.1:p.Lys520=
ENST00000689418.1:c.*3632A>G (RAF1)	ENSP00000509467.1:n.*3632A>G
ENST00000689540.1:n.4105A>G (RAF1)
ENST00000689876.1:c.*286A>G (RAF1)	ENSP00000508535.1:n.*286A>G
ENST00000689914.1:c.*671A>G (RAF1)	ENSP00000509847.1:n.*671A>G
ENST00000690397.1:c.1626A>G (RAF1)	ENSP00000508730.1:p.Lys542=
ENST00000690460.1:c.1725A>G (RAF1)	ENSP00000509106.1:p.Lys575=
ENST00000690585.1:c.463A>G (RAF1)
ENST00000690625.1:n.2773A>G (RAF1)
ENST00000691396.1:c.*1609A>G (RAF1)	ENSP00000510712.1:n.*1609A>G
ENST00000691643.1:n.2790A>G (RAF1)
ENST00000691724.1:c.*694A>G (RAF1)	ENSP00000509255.1:n.*694A>G
ENST00000691779.1:c.*1315A>G (RAF1)	ENSP00000508592.1:n.*1315A>G
ENST00000691888.1:c.611A>G (RAF1)
ENST00000691899.1:c.1737A>G (RAF1)	ENSP00000508763.1:p.Lys579=
ENST00000692069.1:n.4661A>G (RAF1)
ENST00000692093.1:c.1638A>G (RAF1)	ENSP00000509669.1:p.Lys546=
ENST00000692311.1:n.2561A>G (RAF1)
ENST00000692558.1:n.4320A>G (RAF1)
ENST00000692773.1:c.*1474A>G (RAF1)	ENSP00000509055.1:n.*1474A>G
ENST00000692830.1:c.*1482A>G (RAF1)	ENSP00000509461.1:n.*1482A>G
ENST00000693312.1:c.1512A>G (RAF1)	ENSP00000508686.1:p.Lys504=
ENST00000693664.1:c.*188A>G (RAF1)	ENSP00000509614.1:n.*188A>G
ENST00000693705.1:c.*1116A>G (RAF1)	ENSP00000510697.1:n.*1116A>G
ENST00000251849.9:c.1737A>G (RAF1) MANE Select	ENSP00000251849.4:p.Lys579=
ENST00000442415.7:c.1797A>G (RAF1)	ENSP00000401888.2:p.Lys599=
ENST00000676541.1:c.*2660T>C (MKRN2)	ENSP00000503730.1:n.*2660T>C
ENST00000677142.1:c.*2660T>C (MKRN2)	ENSP00000504455.1:n.*2660T>C
ENST00000677816.1:c.*1215T>C (MKRN2)	ENSP00000502893.1:n.*1215T>C
ENST00000677941.1:n.2723T>C (MKRN2)
ENST00000251849.8:c.1737A>G (RAF1)	ENSP00000251849.4:p.Lys579=
ENST00000423275.5:c.*1414A>G (RAF1)	ENSP00000401088.1:n.*1414A>G
ENST00000432427.2:c.1374A>G (RAF1)	ENSP00000398591.2:p.Lys458=
ENST00000442415.6:c.1797A>G (RAF1)	ENSP00000401888.2:p.Lys599=
ENST00000471449.1:n.426A>G (RAF1)
NM_002880.3:c.1737A>G , LRG_413t1:c.1737A>G (RAF1)	NP_002871.1:p.Lys579=
XM_005265355.1:c.1737A>G (RAF1)	XP_005265412.1:p.Lys579=
XM_005265357.1:c.1638A>G (RAF1)	XP_005265414.1:p.Lys546=
XM_005265358.3:c.1494A>G (RAF1)	XP_005265415.1:p.Lys498=
XM_005265359.3:c.1395A>G (RAF1)	XP_005265416.1:p.Lys465=
XM_011533974.1:c.1737A>G (RAF1)	XP_011532276.1:p.Lys579=
XM_011533975.1:c.1494A>G (RAF1)	XP_011532277.1:p.Lys498=
NM_001354689.1:c.1797A>G (RAF1)	NP_001341618.1:p.Lys599=
NM_001354690.1:c.1737A>G (RAF1)	NP_001341619.1:p.Lys579=
NM_001354691.1:c.1494A>G (RAF1)	NP_001341620.1:p.Lys498=
NM_001354692.1:c.1494A>G (RAF1)	NP_001341621.1:p.Lys498=
NM_001354693.1:c.1638A>G (RAF1)	NP_001341622.1:p.Lys546=
NM_001354694.1:c.1554A>G (RAF1)	NP_001341623.1:p.Lys518=
NM_001354695.1:c.1395A>G (RAF1)	NP_001341624.1:p.Lys465=
NR_148940.1:n.2265A>G (RAF1)
NR_148941.1:n.2211A>G (RAF1)
NR_148942.1:n.2150A>G (RAF1)
XM_011533974.3:c.1737A>G (RAF1)	XP_011532276.1:p.Lys579=
XM_017006966.1:c.1638A>G (RAF1)	XP_016862455.1:p.Lys546=
NM_001354689.3:c.1797A>G (RAF1)	NP_001341618.1:p.Lys599=
NM_001354690.2:c.1737A>G (RAF1)	NP_001341619.1:p.Lys579=
NM_001354691.2:c.1494A>G (RAF1)	NP_001341620.1:p.Lys498=
NM_001354692.2:c.1494A>G (RAF1)	NP_001341621.1:p.Lys498=
NM_001354693.2:c.1638A>G (RAF1)	NP_001341622.1:p.Lys546=
NM_001354694.2:c.1554A>G (RAF1)	NP_001341623.1:p.Lys518=
NM_001354695.2:c.1395A>G (RAF1)	NP_001341624.1:p.Lys465=
NR_148940.2:n.2181A>G (RAF1)
NR_148941.2:n.2127A>G (RAF1)
NR_148942.2:n.2066A>G (RAF1)
NM_001354690.3:c.1737A>G (RAF1)	NP_001341619.1:p.Lys579=
NM_001354691.3:c.1494A>G (RAF1)	NP_001341620.1:p.Lys498=
NM_001354692.3:c.1494A>G (RAF1)	NP_001341621.1:p.Lys498=
NM_001354693.3:c.1638A>G (RAF1)	NP_001341622.1:p.Lys546=
NM_001354694.3:c.1554A>G (RAF1)	NP_001341623.1:p.Lys518=
NM_001354695.3:c.1395A>G (RAF1)	NP_001341624.1:p.Lys465=
NM_002880.4:c.1737A>G (RAF1) MANE Select	NP_002871.1:p.Lys579=
NR_148940.3:n.2181A>G (RAF1)
NR_148941.3:n.2127A>G (RAF1)
NR_148942.3:n.2066A>G (RAF1)