Canonical Allele Identifier: CA351496853

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1695063
• ClinVar RCV Id: RCV002263313
• dbSNP Id: rs2125319809
• MyVariant Identifiers: chr3:g.12626438T>C (hg19) ; chr3:g.12584939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584939T>C , CM000665.2:g.12584939T>C	GRCh38
NC_000003.11:g.12626438T>C , CM000665.1:g.12626438T>C	GRCh37
NC_000003.10:g.12601438T>C	NCBI36
NG_007467.1:g.84241A>G , LRG_413:g.84241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1376A>G (RAF1)	ENSP00000401088.1:n.*1376A>G
ENST00000432427.3:c.1028A>G (RAF1)
ENST00000460610.2:n.6023A>G (RAF1)
ENST00000471449.2:n.521A>G (RAF1)
ENST00000475353.2:n.3991A>G (RAF1)
ENST00000684903.1:c.*1388A>G (RAF1)	ENSP00000508612.1:n.*1388A>G
ENST00000685348.1:c.*1422A>G (RAF1)	ENSP00000510285.1:n.*1422A>G
ENST00000685437.1:c.1612A>G (RAF1)	ENSP00000508794.1:p.Ser538Gly
ENST00000685653.1:c.1711A>G (RAF1)	ENSP00000509968.1:p.Ser571Gly
ENST00000685697.1:n.2446A>G (RAF1)
ENST00000685738.1:c.*675A>G (RAF1)	ENSP00000510156.1:n.*675A>G
ENST00000686409.1:n.5120A>G (RAF1)
ENST00000686455.1:n.4432A>G (RAF1)
ENST00000686762.1:c.*270A>G (RAF1)	ENSP00000509767.1:n.*270A>G
ENST00000687257.1:n.4165A>G (RAF1)
ENST00000687326.1:c.*3003A>G (RAF1)	ENSP00000509665.1:n.*3003A>G
ENST00000687505.1:n.1829A>G (RAF1)
ENST00000687923.1:c.1600A>G (RAF1)	ENSP00000510255.1:p.Ser534Gly
ENST00000688269.1:n.2307A>G (RAF1)
ENST00000688444.1:n.3828A>G (RAF1)
ENST00000688543.1:c.1612A>G (RAF1)	ENSP00000509612.1:p.Ser538Gly
ENST00000688625.1:c.*3080A>G (RAF1)	ENSP00000509522.1:n.*3080A>G
ENST00000688803.1:n.3139A>G (RAF1)
ENST00000688914.1:n.1124A>G (RAF1)
ENST00000689097.1:c.*1388A>G (RAF1)	ENSP00000509756.1:n.*1388A>G
ENST00000689389.1:c.1534A>G (RAF1)	ENSP00000510213.1:p.Ser512Gly
ENST00000689418.1:c.*3606A>G (RAF1)	ENSP00000509467.1:n.*3606A>G
ENST00000689540.1:n.4079A>G (RAF1)
ENST00000689876.1:c.*260A>G (RAF1)	ENSP00000508535.1:n.*260A>G
ENST00000689914.1:c.*645A>G (RAF1)	ENSP00000509847.1:n.*645A>G
ENST00000690397.1:c.1600A>G (RAF1)	ENSP00000508730.1:p.Ser534Gly
ENST00000690460.1:c.1699A>G (RAF1)	ENSP00000509106.1:p.Ser567Gly
ENST00000690585.1:c.437A>G (RAF1)
ENST00000690625.1:n.2747A>G (RAF1)
ENST00000691396.1:c.*1583A>G (RAF1)	ENSP00000510712.1:n.*1583A>G
ENST00000691643.1:n.2764A>G (RAF1)
ENST00000691724.1:c.*668A>G (RAF1)	ENSP00000509255.1:n.*668A>G
ENST00000691779.1:c.*1289A>G (RAF1)	ENSP00000508592.1:n.*1289A>G
ENST00000691888.1:c.585A>G (RAF1)
ENST00000691899.1:c.1711A>G (RAF1)	ENSP00000508763.1:p.Ser571Gly
ENST00000692069.1:n.4635A>G (RAF1)
ENST00000692093.1:c.1612A>G (RAF1)	ENSP00000509669.1:p.Ser538Gly
ENST00000692311.1:n.2535A>G (RAF1)
ENST00000692558.1:n.4294A>G (RAF1)
ENST00000692773.1:c.*1448A>G (RAF1)	ENSP00000509055.1:n.*1448A>G
ENST00000692830.1:c.*1456A>G (RAF1)	ENSP00000509461.1:n.*1456A>G
ENST00000693312.1:c.1486A>G (RAF1)	ENSP00000508686.1:p.Ser496Gly
ENST00000693664.1:c.*162A>G (RAF1)	ENSP00000509614.1:n.*162A>G
ENST00000693705.1:c.*1090A>G (RAF1)	ENSP00000510697.1:n.*1090A>G
ENST00000251849.9:c.1711A>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser571Gly
ENST00000442415.7:c.1771A>G (RAF1)	ENSP00000401888.2:p.Ser591Gly
ENST00000676541.1:c.*2686T>C (MKRN2)	ENSP00000503730.1:n.*2686T>C
ENST00000677142.1:c.*2686T>C (MKRN2)	ENSP00000504455.1:n.*2686T>C
ENST00000677816.1:c.*1241T>C (MKRN2)	ENSP00000502893.1:n.*1241T>C
ENST00000677941.1:n.2749T>C (MKRN2)
ENST00000251849.8:c.1711A>G (RAF1)	ENSP00000251849.4:p.Ser571Gly
ENST00000423275.5:c.*1388A>G (RAF1)	ENSP00000401088.1:n.*1388A>G
ENST00000432427.2:c.1348A>G (RAF1)	ENSP00000398591.2:p.Ser450Gly
ENST00000442415.6:c.1771A>G (RAF1)	ENSP00000401888.2:p.Ser591Gly
ENST00000471449.1:n.400A>G (RAF1)
NM_002880.3:c.1711A>G , LRG_413t1:c.1711A>G (RAF1)	NP_002871.1:p.Ser571Gly
XM_005265355.1:c.1711A>G (RAF1)	XP_005265412.1:p.Ser571Gly
XM_005265357.1:c.1612A>G (RAF1)	XP_005265414.1:p.Ser538Gly
XM_005265358.3:c.1468A>G (RAF1)	XP_005265415.1:p.Ser490Gly
XM_005265359.3:c.1369A>G (RAF1)	XP_005265416.1:p.Ser457Gly
XM_011533974.1:c.1711A>G (RAF1)	XP_011532276.1:p.Ser571Gly
XM_011533975.1:c.1468A>G (RAF1)	XP_011532277.1:p.Ser490Gly
NM_001354689.1:c.1771A>G (RAF1)	NP_001341618.1:p.Ser591Gly
NM_001354690.1:c.1711A>G (RAF1)	NP_001341619.1:p.Ser571Gly
NM_001354691.1:c.1468A>G (RAF1)	NP_001341620.1:p.Ser490Gly
NM_001354692.1:c.1468A>G (RAF1)	NP_001341621.1:p.Ser490Gly
NM_001354693.1:c.1612A>G (RAF1)	NP_001341622.1:p.Ser538Gly
NM_001354694.1:c.1528A>G (RAF1)	NP_001341623.1:p.Ser510Gly
NM_001354695.1:c.1369A>G (RAF1)	NP_001341624.1:p.Ser457Gly
NR_148940.1:n.2239A>G (RAF1)
NR_148941.1:n.2185A>G (RAF1)
NR_148942.1:n.2124A>G (RAF1)
XM_011533974.3:c.1711A>G (RAF1)	XP_011532276.1:p.Ser571Gly
XM_017006966.1:c.1612A>G (RAF1)	XP_016862455.1:p.Ser538Gly
NM_001354689.3:c.1771A>G (RAF1)	NP_001341618.1:p.Ser591Gly
NM_001354690.2:c.1711A>G (RAF1)	NP_001341619.1:p.Ser571Gly
NM_001354691.2:c.1468A>G (RAF1)	NP_001341620.1:p.Ser490Gly
NM_001354692.2:c.1468A>G (RAF1)	NP_001341621.1:p.Ser490Gly
NM_001354693.2:c.1612A>G (RAF1)	NP_001341622.1:p.Ser538Gly
NM_001354694.2:c.1528A>G (RAF1)	NP_001341623.1:p.Ser510Gly
NM_001354695.2:c.1369A>G (RAF1)	NP_001341624.1:p.Ser457Gly
NR_148940.2:n.2155A>G (RAF1)
NR_148941.2:n.2101A>G (RAF1)
NR_148942.2:n.2040A>G (RAF1)
NM_001354690.3:c.1711A>G (RAF1)	NP_001341619.1:p.Ser571Gly
NM_001354691.3:c.1468A>G (RAF1)	NP_001341620.1:p.Ser490Gly
NM_001354692.3:c.1468A>G (RAF1)	NP_001341621.1:p.Ser490Gly
NM_001354693.3:c.1612A>G (RAF1)	NP_001341622.1:p.Ser538Gly
NM_001354694.3:c.1528A>G (RAF1)	NP_001341623.1:p.Ser510Gly
NM_001354695.3:c.1369A>G (RAF1)	NP_001341624.1:p.Ser457Gly
NM_002880.4:c.1711A>G (RAF1) MANE Select	NP_002871.1:p.Ser571Gly
NR_148940.3:n.2155A>G (RAF1)
NR_148941.3:n.2101A>G (RAF1)
NR_148942.3:n.2040A>G (RAF1)