Canonical Allele Identifier: CA351496881

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584947-G-A
• MyVariant Identifiers: chr3:g.12626446G>A (hg19) ; chr3:g.12584947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584947G>A , CM000665.2:g.12584947G>A	GRCh38
NC_000003.11:g.12626446G>A , CM000665.1:g.12626446G>A	GRCh37
NC_000003.10:g.12601446G>A	NCBI36
NG_007467.1:g.84233C>T , LRG_413:g.84233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1368C>T (RAF1)	ENSP00000401088.1:n.*1368C>T
ENST00000432427.3:c.1020C>T (RAF1)
ENST00000460610.2:n.6015C>T (RAF1)
ENST00000471449.2:n.513C>T (RAF1)
ENST00000475353.2:n.3983C>T (RAF1)
ENST00000684903.1:c.*1380C>T (RAF1)	ENSP00000508612.1:n.*1380C>T
ENST00000685348.1:c.*1414C>T (RAF1)	ENSP00000510285.1:n.*1414C>T
ENST00000685437.1:c.1604C>T (RAF1)	ENSP00000508794.1:p.Pro535Leu
ENST00000685653.1:c.1703C>T (RAF1)	ENSP00000509968.1:p.Pro568Leu
ENST00000685697.1:n.2438C>T (RAF1)
ENST00000685738.1:c.*667C>T (RAF1)	ENSP00000510156.1:n.*667C>T
ENST00000686409.1:n.5112C>T (RAF1)
ENST00000686455.1:n.4424C>T (RAF1)
ENST00000686762.1:c.*262C>T (RAF1)	ENSP00000509767.1:n.*262C>T
ENST00000687257.1:n.4157C>T (RAF1)
ENST00000687326.1:c.*2995C>T (RAF1)	ENSP00000509665.1:n.*2995C>T
ENST00000687505.1:n.1821C>T (RAF1)
ENST00000687923.1:c.1592C>T (RAF1)	ENSP00000510255.1:p.Pro531Leu
ENST00000688269.1:n.2299C>T (RAF1)
ENST00000688444.1:n.3820C>T (RAF1)
ENST00000688543.1:c.1604C>T (RAF1)	ENSP00000509612.1:p.Pro535Leu
ENST00000688625.1:c.*3072C>T (RAF1)	ENSP00000509522.1:n.*3072C>T
ENST00000688803.1:n.3131C>T (RAF1)
ENST00000688914.1:n.1116C>T (RAF1)
ENST00000689097.1:c.*1380C>T (RAF1)	ENSP00000509756.1:n.*1380C>T
ENST00000689389.1:c.1526C>T (RAF1)	ENSP00000510213.1:p.Pro509Leu
ENST00000689418.1:c.*3598C>T (RAF1)	ENSP00000509467.1:n.*3598C>T
ENST00000689540.1:n.4071C>T (RAF1)
ENST00000689876.1:c.*252C>T (RAF1)	ENSP00000508535.1:n.*252C>T
ENST00000689914.1:c.*637C>T (RAF1)	ENSP00000509847.1:n.*637C>T
ENST00000690397.1:c.1592C>T (RAF1)	ENSP00000508730.1:p.Pro531Leu
ENST00000690460.1:c.1691C>T (RAF1)	ENSP00000509106.1:p.Pro564Leu
ENST00000690585.1:c.429C>T (RAF1)
ENST00000690625.1:n.2739C>T (RAF1)
ENST00000691396.1:c.*1575C>T (RAF1)	ENSP00000510712.1:n.*1575C>T
ENST00000691643.1:n.2756C>T (RAF1)
ENST00000691724.1:c.*660C>T (RAF1)	ENSP00000509255.1:n.*660C>T
ENST00000691779.1:c.*1281C>T (RAF1)	ENSP00000508592.1:n.*1281C>T
ENST00000691888.1:c.577C>T (RAF1)
ENST00000691899.1:c.1703C>T (RAF1)	ENSP00000508763.1:p.Pro568Leu
ENST00000692069.1:n.4627C>T (RAF1)
ENST00000692093.1:c.1604C>T (RAF1)	ENSP00000509669.1:p.Pro535Leu
ENST00000692311.1:n.2527C>T (RAF1)
ENST00000692558.1:n.4286C>T (RAF1)
ENST00000692773.1:c.*1440C>T (RAF1)	ENSP00000509055.1:n.*1440C>T
ENST00000692830.1:c.*1448C>T (RAF1)	ENSP00000509461.1:n.*1448C>T
ENST00000693312.1:c.1478C>T (RAF1)	ENSP00000508686.1:p.Pro493Leu
ENST00000693664.1:c.*154C>T (RAF1)	ENSP00000509614.1:n.*154C>T
ENST00000693705.1:c.*1082C>T (RAF1)	ENSP00000510697.1:n.*1082C>T
ENST00000251849.9:c.1703C>T (RAF1) MANE Select	ENSP00000251849.4:p.Pro568Leu
ENST00000442415.7:c.1763C>T (RAF1)	ENSP00000401888.2:p.Pro588Leu
ENST00000676541.1:c.*2694G>A (MKRN2)	ENSP00000503730.1:n.*2694G>A
ENST00000677142.1:c.*2694G>A (MKRN2)	ENSP00000504455.1:n.*2694G>A
ENST00000677816.1:c.*1249G>A (MKRN2)	ENSP00000502893.1:n.*1249G>A
ENST00000677941.1:n.2757G>A (MKRN2)
ENST00000251849.8:c.1703C>T (RAF1)	ENSP00000251849.4:p.Pro568Leu
ENST00000423275.5:c.*1380C>T (RAF1)	ENSP00000401088.1:n.*1380C>T
ENST00000432427.2:c.1340C>T (RAF1)	ENSP00000398591.2:p.Pro447Leu
ENST00000442415.6:c.1763C>T (RAF1)	ENSP00000401888.2:p.Pro588Leu
ENST00000471449.1:n.392C>T (RAF1)
NM_002880.3:c.1703C>T , LRG_413t1:c.1703C>T (RAF1)	NP_002871.1:p.Pro568Leu
XM_005265355.1:c.1703C>T (RAF1)	XP_005265412.1:p.Pro568Leu
XM_005265357.1:c.1604C>T (RAF1)	XP_005265414.1:p.Pro535Leu
XM_005265358.3:c.1460C>T (RAF1)	XP_005265415.1:p.Pro487Leu
XM_005265359.3:c.1361C>T (RAF1)	XP_005265416.1:p.Pro454Leu
XM_011533974.1:c.1703C>T (RAF1)	XP_011532276.1:p.Pro568Leu
XM_011533975.1:c.1460C>T (RAF1)	XP_011532277.1:p.Pro487Leu
NM_001354689.1:c.1763C>T (RAF1)	NP_001341618.1:p.Pro588Leu
NM_001354690.1:c.1703C>T (RAF1)	NP_001341619.1:p.Pro568Leu
NM_001354691.1:c.1460C>T (RAF1)	NP_001341620.1:p.Pro487Leu
NM_001354692.1:c.1460C>T (RAF1)	NP_001341621.1:p.Pro487Leu
NM_001354693.1:c.1604C>T (RAF1)	NP_001341622.1:p.Pro535Leu
NM_001354694.1:c.1520C>T (RAF1)	NP_001341623.1:p.Pro507Leu
NM_001354695.1:c.1361C>T (RAF1)	NP_001341624.1:p.Pro454Leu
NR_148940.1:n.2231C>T (RAF1)
NR_148941.1:n.2177C>T (RAF1)
NR_148942.1:n.2116C>T (RAF1)
XM_011533974.3:c.1703C>T (RAF1)	XP_011532276.1:p.Pro568Leu
XM_017006966.1:c.1604C>T (RAF1)	XP_016862455.1:p.Pro535Leu
NM_001354689.3:c.1763C>T (RAF1)	NP_001341618.1:p.Pro588Leu
NM_001354690.2:c.1703C>T (RAF1)	NP_001341619.1:p.Pro568Leu
NM_001354691.2:c.1460C>T (RAF1)	NP_001341620.1:p.Pro487Leu
NM_001354692.2:c.1460C>T (RAF1)	NP_001341621.1:p.Pro487Leu
NM_001354693.2:c.1604C>T (RAF1)	NP_001341622.1:p.Pro535Leu
NM_001354694.2:c.1520C>T (RAF1)	NP_001341623.1:p.Pro507Leu
NM_001354695.2:c.1361C>T (RAF1)	NP_001341624.1:p.Pro454Leu
NR_148940.2:n.2147C>T (RAF1)
NR_148941.2:n.2093C>T (RAF1)
NR_148942.2:n.2032C>T (RAF1)
NM_001354690.3:c.1703C>T (RAF1)	NP_001341619.1:p.Pro568Leu
NM_001354691.3:c.1460C>T (RAF1)	NP_001341620.1:p.Pro487Leu
NM_001354692.3:c.1460C>T (RAF1)	NP_001341621.1:p.Pro487Leu
NM_001354693.3:c.1604C>T (RAF1)	NP_001341622.1:p.Pro535Leu
NM_001354694.3:c.1520C>T (RAF1)	NP_001341623.1:p.Pro507Leu
NM_001354695.3:c.1361C>T (RAF1)	NP_001341624.1:p.Pro454Leu
NM_002880.4:c.1703C>T (RAF1) MANE Select	NP_002871.1:p.Pro568Leu
NR_148940.3:n.2147C>T (RAF1)
NR_148941.3:n.2093C>T (RAF1)
NR_148942.3:n.2032C>T (RAF1)