Canonical Allele Identifier: CA351496442

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2058274541
• gnomAD v3: 3-12584858-G-A
• gnomAD v4: 3-12584858-G-A
• MyVariant Identifiers: chr3:g.12626357G>A (hg19) ; chr3:g.12584858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584858G>A , CM000665.2:g.12584858G>A	GRCh38
NC_000003.11:g.12626357G>A , CM000665.1:g.12626357G>A	GRCh37
NC_000003.10:g.12601357G>A	NCBI36
NG_007467.1:g.84322C>T , LRG_413:g.84322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1457C>T (RAF1)	ENSP00000401088.1:n.*1457C>T
ENST00000432427.3:c.1109C>T (RAF1)
ENST00000460610.2:n.6104C>T (RAF1)
ENST00000471449.2:n.602C>T (RAF1)
ENST00000475353.2:n.4072C>T (RAF1)
ENST00000684903.1:c.*1469C>T (RAF1)	ENSP00000508612.1:n.*1469C>T
ENST00000685348.1:c.*1503C>T (RAF1)	ENSP00000510285.1:n.*1503C>T
ENST00000685437.1:c.1693C>T (RAF1)	ENSP00000508794.1:p.Leu565Phe
ENST00000685653.1:c.1792C>T (RAF1)	ENSP00000509968.1:p.Leu598Phe
ENST00000685697.1:n.2527C>T (RAF1)
ENST00000685738.1:c.*756C>T (RAF1)	ENSP00000510156.1:n.*756C>T
ENST00000686409.1:n.5201C>T (RAF1)
ENST00000686455.1:n.4513C>T (RAF1)
ENST00000686762.1:c.*351C>T (RAF1)	ENSP00000509767.1:n.*351C>T
ENST00000687257.1:n.4246C>T (RAF1)
ENST00000687326.1:c.*3084C>T (RAF1)	ENSP00000509665.1:n.*3084C>T
ENST00000687505.1:n.1910C>T (RAF1)
ENST00000687923.1:c.1681C>T (RAF1)	ENSP00000510255.1:p.Leu561Phe
ENST00000688269.1:n.2388C>T (RAF1)
ENST00000688444.1:n.3909C>T (RAF1)
ENST00000688543.1:c.1693C>T (RAF1)	ENSP00000509612.1:p.Leu565Phe
ENST00000688625.1:c.*3161C>T (RAF1)	ENSP00000509522.1:n.*3161C>T
ENST00000688803.1:n.3220C>T (RAF1)
ENST00000689097.1:c.*1469C>T (RAF1)	ENSP00000509756.1:n.*1469C>T
ENST00000689389.1:c.1615C>T (RAF1)	ENSP00000510213.1:p.Leu539Phe
ENST00000689418.1:c.*3687C>T (RAF1)	ENSP00000509467.1:n.*3687C>T
ENST00000689540.1:n.4160C>T (RAF1)
ENST00000689876.1:c.*341C>T (RAF1)	ENSP00000508535.1:n.*341C>T
ENST00000689914.1:c.*726C>T (RAF1)	ENSP00000509847.1:n.*726C>T
ENST00000690397.1:c.1681C>T (RAF1)	ENSP00000508730.1:p.Leu561Phe
ENST00000690460.1:c.1780C>T (RAF1)	ENSP00000509106.1:p.Leu594Phe
ENST00000690585.1:c.518C>T (RAF1)
ENST00000690625.1:n.2828C>T (RAF1)
ENST00000691396.1:c.*1664C>T (RAF1)	ENSP00000510712.1:n.*1664C>T
ENST00000691643.1:n.2845C>T (RAF1)
ENST00000691724.1:c.*749C>T (RAF1)	ENSP00000509255.1:n.*749C>T
ENST00000691779.1:c.*1370C>T (RAF1)	ENSP00000508592.1:n.*1370C>T
ENST00000691888.1:c.666C>T (RAF1)
ENST00000691899.1:c.1792C>T (RAF1)	ENSP00000508763.1:p.Leu598Phe
ENST00000692069.1:n.4716C>T (RAF1)
ENST00000692093.1:c.1693C>T (RAF1)	ENSP00000509669.1:p.Leu565Phe
ENST00000692311.1:n.2616C>T (RAF1)
ENST00000692558.1:n.4375C>T (RAF1)
ENST00000692773.1:c.*1529C>T (RAF1)	ENSP00000509055.1:n.*1529C>T
ENST00000692830.1:c.*1537C>T (RAF1)	ENSP00000509461.1:n.*1537C>T
ENST00000693312.1:c.1567C>T (RAF1)	ENSP00000508686.1:p.Leu523Phe
ENST00000693664.1:c.*243C>T (RAF1)	ENSP00000509614.1:n.*243C>T
ENST00000693705.1:c.*1171C>T (RAF1)	ENSP00000510697.1:n.*1171C>T
ENST00000251849.9:c.1792C>T (RAF1) MANE Select	ENSP00000251849.4:p.Leu598Phe
ENST00000442415.7:c.1852C>T (RAF1)	ENSP00000401888.2:p.Leu618Phe
ENST00000676541.1:c.*2605G>A (MKRN2)	ENSP00000503730.1:n.*2605G>A
ENST00000677142.1:c.*2605G>A (MKRN2)	ENSP00000504455.1:n.*2605G>A
ENST00000677816.1:c.*1160G>A (MKRN2)	ENSP00000502893.1:n.*1160G>A
ENST00000677941.1:n.2668G>A (MKRN2)
ENST00000251849.8:c.1792C>T (RAF1)	ENSP00000251849.4:p.Leu598Phe
ENST00000423275.5:c.*1469C>T (RAF1)	ENSP00000401088.1:n.*1469C>T
ENST00000432427.2:c.1429C>T (RAF1)	ENSP00000398591.2:p.Leu477Phe
ENST00000442415.6:c.1852C>T (RAF1)	ENSP00000401888.2:p.Leu618Phe
ENST00000471449.1:n.481C>T (RAF1)
NM_002880.3:c.1792C>T , LRG_413t1:c.1792C>T (RAF1)	NP_002871.1:p.Leu598Phe
XM_005265355.1:c.1792C>T (RAF1)	XP_005265412.1:p.Leu598Phe
XM_005265357.1:c.1693C>T (RAF1)	XP_005265414.1:p.Leu565Phe
XM_005265358.3:c.1549C>T (RAF1)	XP_005265415.1:p.Leu517Phe
XM_005265359.3:c.1450C>T (RAF1)	XP_005265416.1:p.Leu484Phe
XM_011533974.1:c.1792C>T (RAF1)	XP_011532276.1:p.Leu598Phe
XM_011533975.1:c.1549C>T (RAF1)	XP_011532277.1:p.Leu517Phe
NM_001354689.1:c.1852C>T (RAF1)	NP_001341618.1:p.Leu618Phe
NM_001354690.1:c.1792C>T (RAF1)	NP_001341619.1:p.Leu598Phe
NM_001354691.1:c.1549C>T (RAF1)	NP_001341620.1:p.Leu517Phe
NM_001354692.1:c.1549C>T (RAF1)	NP_001341621.1:p.Leu517Phe
NM_001354693.1:c.1693C>T (RAF1)	NP_001341622.1:p.Leu565Phe
NM_001354694.1:c.1609C>T (RAF1)	NP_001341623.1:p.Leu537Phe
NM_001354695.1:c.1450C>T (RAF1)	NP_001341624.1:p.Leu484Phe
NR_148940.1:n.2320C>T (RAF1)
NR_148941.1:n.2266C>T (RAF1)
NR_148942.1:n.2205C>T (RAF1)
XM_011533974.3:c.1792C>T (RAF1)	XP_011532276.1:p.Leu598Phe
XM_017006966.1:c.1693C>T (RAF1)	XP_016862455.1:p.Leu565Phe
NM_001354689.3:c.1852C>T (RAF1)	NP_001341618.1:p.Leu618Phe
NM_001354690.2:c.1792C>T (RAF1)	NP_001341619.1:p.Leu598Phe
NM_001354691.2:c.1549C>T (RAF1)	NP_001341620.1:p.Leu517Phe
NM_001354692.2:c.1549C>T (RAF1)	NP_001341621.1:p.Leu517Phe
NM_001354693.2:c.1693C>T (RAF1)	NP_001341622.1:p.Leu565Phe
NM_001354694.2:c.1609C>T (RAF1)	NP_001341623.1:p.Leu537Phe
NM_001354695.2:c.1450C>T (RAF1)	NP_001341624.1:p.Leu484Phe
NR_148940.2:n.2236C>T (RAF1)
NR_148941.2:n.2182C>T (RAF1)
NR_148942.2:n.2121C>T (RAF1)
NM_001354690.3:c.1792C>T (RAF1)	NP_001341619.1:p.Leu598Phe
NM_001354691.3:c.1549C>T (RAF1)	NP_001341620.1:p.Leu517Phe
NM_001354692.3:c.1549C>T (RAF1)	NP_001341621.1:p.Leu517Phe
NM_001354693.3:c.1693C>T (RAF1)	NP_001341622.1:p.Leu565Phe
NM_001354694.3:c.1609C>T (RAF1)	NP_001341623.1:p.Leu537Phe
NM_001354695.3:c.1450C>T (RAF1)	NP_001341624.1:p.Leu484Phe
NM_002880.4:c.1792C>T (RAF1) MANE Select	NP_002871.1:p.Leu598Phe
NR_148940.3:n.2236C>T (RAF1)
NR_148941.3:n.2182C>T (RAF1)
NR_148942.3:n.2121C>T (RAF1)