Canonical Allele Identifier: CA351498854

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125325590
• MyVariant Identifiers: chr3:g.12627197C>T (hg19) ; chr3:g.12585698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585698C>T , CM000665.2:g.12585698C>T	GRCh38
NC_000003.11:g.12627197C>T , CM000665.1:g.12627197C>T	GRCh37
NC_000003.10:g.12602197C>T	NCBI36
NG_007467.1:g.83482G>A , LRG_413:g.83482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1184G>A (RAF1)	ENSP00000401088.1:n.*1184G>A
ENST00000432427.3:c.836G>A (RAF1)
ENST00000460610.2:n.5264G>A (RAF1)
ENST00000471449.2:n.329G>A (RAF1)
ENST00000475353.2:n.3232G>A (RAF1)
ENST00000684903.1:c.*1196G>A (RAF1)	ENSP00000508612.1:n.*1196G>A
ENST00000685348.1:c.*1095-292G>A (RAF1)	ENSP00000510285.1:n.*1095-292G>A
ENST00000685437.1:c.1420G>A (RAF1)	ENSP00000508794.1:p.Gly474Ser
ENST00000685653.1:c.1519G>A (RAF1)	ENSP00000509968.1:p.Gly507Ser
ENST00000685697.1:n.2254G>A (RAF1)
ENST00000685738.1:c.*483G>A (RAF1)	ENSP00000510156.1:n.*483G>A
ENST00000686409.1:n.4361G>A (RAF1)
ENST00000686455.1:n.3673G>A (RAF1)
ENST00000686762.1:c.*78G>A (RAF1)	ENSP00000509767.1:n.*78G>A
ENST00000687257.1:n.3546G>A (RAF1)
ENST00000687326.1:c.*2244G>A (RAF1)	ENSP00000509665.1:n.*2244G>A
ENST00000687505.1:n.1637G>A (RAF1)
ENST00000687923.1:c.1408G>A (RAF1)	ENSP00000510255.1:p.Gly470Ser
ENST00000688269.1:n.2115G>A (RAF1)
ENST00000688444.1:n.3636G>A (RAF1)
ENST00000688543.1:c.1420G>A (RAF1)	ENSP00000509612.1:p.Gly474Ser
ENST00000688625.1:c.*2888G>A (RAF1)	ENSP00000509522.1:n.*2888G>A
ENST00000688803.1:n.2965-445G>A (RAF1)
ENST00000688914.1:n.505G>A (RAF1)
ENST00000689097.1:c.*1196G>A (RAF1)	ENSP00000509756.1:n.*1196G>A
ENST00000689389.1:c.1342G>A (RAF1)	ENSP00000510213.1:p.Gly448Ser
ENST00000689418.1:c.*2987G>A (RAF1)	ENSP00000509467.1:n.*2987G>A
ENST00000689540.1:n.3460G>A (RAF1)
ENST00000689876.1:c.1418-292G>A (RAF1)	ENSP00000508535.1:n.1418-292G>A
ENST00000689914.1:c.*453G>A (RAF1)	ENSP00000509847.1:n.*453G>A
ENST00000690397.1:c.1408G>A (RAF1)	ENSP00000508730.1:p.Gly470Ser
ENST00000690460.1:c.1507G>A (RAF1)	ENSP00000509106.1:p.Gly503Ser
ENST00000690585.1:c.263-445G>A (RAF1)
ENST00000690625.1:n.2555G>A (RAF1)
ENST00000691396.1:c.*1391G>A (RAF1)	ENSP00000510712.1:n.*1391G>A
ENST00000691643.1:n.2145G>A (RAF1)
ENST00000691724.1:c.*476G>A (RAF1)	ENSP00000509255.1:n.*476G>A
ENST00000691779.1:c.*1097G>A (RAF1)	ENSP00000508592.1:n.*1097G>A
ENST00000691888.1:c.393G>A (RAF1)
ENST00000691899.1:c.1519G>A (RAF1)	ENSP00000508763.1:p.Gly507Ser
ENST00000692069.1:n.3876G>A (RAF1)
ENST00000692093.1:c.1420G>A (RAF1)	ENSP00000509669.1:p.Gly474Ser
ENST00000692311.1:n.2343G>A (RAF1)
ENST00000692558.1:n.3675G>A (RAF1)
ENST00000692773.1:c.*1256G>A (RAF1)	ENSP00000509055.1:n.*1256G>A
ENST00000692830.1:c.*1264G>A (RAF1)	ENSP00000509461.1:n.*1264G>A
ENST00000693312.1:c.1294G>A (RAF1)	ENSP00000508686.1:p.Gly432Ser
ENST00000693664.1:c.1488-445G>A (RAF1)	ENSP00000509614.1:n.1488-445G>A
ENST00000693705.1:c.*1048-717G>A (RAF1)	ENSP00000510697.1:n.*1048-717G>A
ENST00000251849.9:c.1519G>A (RAF1) MANE Select	ENSP00000251849.4:p.Gly507Ser
ENST00000442415.7:c.1579G>A (RAF1)	ENSP00000401888.2:p.Gly527Ser
ENST00000676541.1:c.*3445C>T (MKRN2)	ENSP00000503730.1:n.*3445C>T
ENST00000677142.1:c.*3445C>T (MKRN2)	ENSP00000504455.1:n.*3445C>T
ENST00000677816.1:c.*2000C>T (MKRN2)	ENSP00000502893.1:n.*2000C>T
ENST00000677941.1:n.3508C>T (MKRN2)
ENST00000251849.8:c.1519G>A (RAF1)	ENSP00000251849.4:p.Gly507Ser
ENST00000423275.5:c.*1196G>A (RAF1)	ENSP00000401088.1:n.*1196G>A
ENST00000432427.2:c.1156G>A (RAF1)	ENSP00000398591.2:p.Gly386Ser
ENST00000442415.6:c.1579G>A (RAF1)	ENSP00000401888.2:p.Gly527Ser
ENST00000471449.1:n.208G>A (RAF1)
NM_002880.3:c.1519G>A , LRG_413t1:c.1519G>A (RAF1)	NP_002871.1:p.Gly507Ser
XM_005265355.1:c.1519G>A (RAF1)	XP_005265412.1:p.Gly507Ser
XM_005265357.1:c.1420G>A (RAF1)	XP_005265414.1:p.Gly474Ser
XM_005265358.3:c.1276G>A (RAF1)	XP_005265415.1:p.Gly426Ser
XM_005265359.3:c.1177G>A (RAF1)	XP_005265416.1:p.Gly393Ser
XM_005265360.1:c.1418-292G>A (RAF1)	XP_005265417.1:n.1418-292G>A
XM_011533974.1:c.1519G>A (RAF1)	XP_011532276.1:p.Gly507Ser
XM_011533975.1:c.1276G>A (RAF1)	XP_011532277.1:p.Gly426Ser
NM_001354689.1:c.1579G>A (RAF1)	NP_001341618.1:p.Gly527Ser
NM_001354690.1:c.1519G>A (RAF1)	NP_001341619.1:p.Gly507Ser
NM_001354691.1:c.1276G>A (RAF1)	NP_001341620.1:p.Gly426Ser
NM_001354692.1:c.1276G>A (RAF1)	NP_001341621.1:p.Gly426Ser
NM_001354693.1:c.1420G>A (RAF1)	NP_001341622.1:p.Gly474Ser
NM_001354694.1:c.1336G>A (RAF1)	NP_001341623.1:p.Gly446Ser
NM_001354695.1:c.1177G>A (RAF1)	NP_001341624.1:p.Gly393Ser
NR_148940.1:n.2047G>A (RAF1)
NR_148941.1:n.1993G>A (RAF1)
NR_148942.1:n.1932G>A (RAF1)
XM_011533974.3:c.1519G>A (RAF1)	XP_011532276.1:p.Gly507Ser
XM_017006966.1:c.1420G>A (RAF1)	XP_016862455.1:p.Gly474Ser
NM_001354689.3:c.1579G>A (RAF1)	NP_001341618.1:p.Gly527Ser
NM_001354690.2:c.1519G>A (RAF1)	NP_001341619.1:p.Gly507Ser
NM_001354691.2:c.1276G>A (RAF1)	NP_001341620.1:p.Gly426Ser
NM_001354692.2:c.1276G>A (RAF1)	NP_001341621.1:p.Gly426Ser
NM_001354693.2:c.1420G>A (RAF1)	NP_001341622.1:p.Gly474Ser
NM_001354694.2:c.1336G>A (RAF1)	NP_001341623.1:p.Gly446Ser
NM_001354695.2:c.1177G>A (RAF1)	NP_001341624.1:p.Gly393Ser
NR_148940.2:n.1963G>A (RAF1)
NR_148941.2:n.1909G>A (RAF1)
NR_148942.2:n.1848G>A (RAF1)
NM_001354690.3:c.1519G>A (RAF1)	NP_001341619.1:p.Gly507Ser
NM_001354691.3:c.1276G>A (RAF1)	NP_001341620.1:p.Gly426Ser
NM_001354692.3:c.1276G>A (RAF1)	NP_001341621.1:p.Gly426Ser
NM_001354693.3:c.1420G>A (RAF1)	NP_001341622.1:p.Gly474Ser
NM_001354694.3:c.1336G>A (RAF1)	NP_001341623.1:p.Gly446Ser
NM_001354695.3:c.1177G>A (RAF1)	NP_001341624.1:p.Gly393Ser
NM_002880.4:c.1519G>A (RAF1) MANE Select	NP_002871.1:p.Gly507Ser
NR_148940.3:n.1963G>A (RAF1)
NR_148941.3:n.1909G>A (RAF1)
NR_148942.3:n.1848G>A (RAF1)