Canonical Allele Identifier: CA351496407

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626351G>C (hg19) ; chr3:g.12584852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584852G>C , CM000665.2:g.12584852G>C	GRCh38
NC_000003.11:g.12626351G>C , CM000665.1:g.12626351G>C	GRCh37
NC_000003.10:g.12601351G>C	NCBI36
NG_007467.1:g.84328C>G , LRG_413:g.84328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1463C>G (RAF1)	ENSP00000401088.1:n.*1463C>G
ENST00000432427.3:c.1115C>G (RAF1)
ENST00000460610.2:n.6110C>G (RAF1)
ENST00000471449.2:n.608C>G (RAF1)
ENST00000475353.2:n.4078C>G (RAF1)
ENST00000684903.1:c.*1475C>G (RAF1)	ENSP00000508612.1:n.*1475C>G
ENST00000685348.1:c.*1509C>G (RAF1)	ENSP00000510285.1:n.*1509C>G
ENST00000685437.1:c.1699C>G (RAF1)	ENSP00000508794.1:p.Pro567Ala
ENST00000685653.1:c.1798C>G (RAF1)	ENSP00000509968.1:p.Pro600Ala
ENST00000685697.1:n.2533C>G (RAF1)
ENST00000685738.1:c.*762C>G (RAF1)	ENSP00000510156.1:n.*762C>G
ENST00000686409.1:n.5207C>G (RAF1)
ENST00000686455.1:n.4519C>G (RAF1)
ENST00000686762.1:c.*357C>G (RAF1)	ENSP00000509767.1:n.*357C>G
ENST00000687257.1:n.4252C>G (RAF1)
ENST00000687326.1:c.*3090C>G (RAF1)	ENSP00000509665.1:n.*3090C>G
ENST00000687505.1:n.1916C>G (RAF1)
ENST00000687923.1:c.1687C>G (RAF1)	ENSP00000510255.1:p.Pro563Ala
ENST00000688269.1:n.2394C>G (RAF1)
ENST00000688444.1:n.3915C>G (RAF1)
ENST00000688543.1:c.1699C>G (RAF1)	ENSP00000509612.1:p.Pro567Ala
ENST00000688625.1:c.*3167C>G (RAF1)	ENSP00000509522.1:n.*3167C>G
ENST00000688803.1:n.3226C>G (RAF1)
ENST00000689097.1:c.*1475C>G (RAF1)	ENSP00000509756.1:n.*1475C>G
ENST00000689389.1:c.1621C>G (RAF1)	ENSP00000510213.1:p.Pro541Ala
ENST00000689418.1:c.*3693C>G (RAF1)	ENSP00000509467.1:n.*3693C>G
ENST00000689540.1:n.4166C>G (RAF1)
ENST00000689876.1:c.*347C>G (RAF1)	ENSP00000508535.1:n.*347C>G
ENST00000689914.1:c.*732C>G (RAF1)	ENSP00000509847.1:n.*732C>G
ENST00000690397.1:c.1687C>G (RAF1)	ENSP00000508730.1:p.Pro563Ala
ENST00000690460.1:c.1786C>G (RAF1)	ENSP00000509106.1:p.Pro596Ala
ENST00000690585.1:c.524C>G (RAF1)
ENST00000690625.1:n.2834C>G (RAF1)
ENST00000691396.1:c.*1670C>G (RAF1)	ENSP00000510712.1:n.*1670C>G
ENST00000691643.1:n.2851C>G (RAF1)
ENST00000691724.1:c.*755C>G (RAF1)	ENSP00000509255.1:n.*755C>G
ENST00000691779.1:c.*1376C>G (RAF1)	ENSP00000508592.1:n.*1376C>G
ENST00000691888.1:c.672C>G (RAF1)
ENST00000691899.1:c.1798C>G (RAF1)	ENSP00000508763.1:p.Pro600Ala
ENST00000692069.1:n.4722C>G (RAF1)
ENST00000692093.1:c.1699C>G (RAF1)	ENSP00000509669.1:p.Pro567Ala
ENST00000692311.1:n.2622C>G (RAF1)
ENST00000692558.1:n.4381C>G (RAF1)
ENST00000692773.1:c.*1535C>G (RAF1)	ENSP00000509055.1:n.*1535C>G
ENST00000692830.1:c.*1543C>G (RAF1)	ENSP00000509461.1:n.*1543C>G
ENST00000693312.1:c.1573C>G (RAF1)	ENSP00000508686.1:p.Pro525Ala
ENST00000693664.1:c.*249C>G (RAF1)	ENSP00000509614.1:n.*249C>G
ENST00000693705.1:c.*1177C>G (RAF1)	ENSP00000510697.1:n.*1177C>G
ENST00000251849.9:c.1798C>G (RAF1) MANE Select	ENSP00000251849.4:p.Pro600Ala
ENST00000442415.7:c.1858C>G (RAF1)	ENSP00000401888.2:p.Pro620Ala
ENST00000676541.1:c.*2599G>C (MKRN2)	ENSP00000503730.1:n.*2599G>C
ENST00000677142.1:c.*2599G>C (MKRN2)	ENSP00000504455.1:n.*2599G>C
ENST00000677816.1:c.*1154G>C (MKRN2)	ENSP00000502893.1:n.*1154G>C
ENST00000677941.1:n.2662G>C (MKRN2)
ENST00000251849.8:c.1798C>G (RAF1)	ENSP00000251849.4:p.Pro600Ala
ENST00000423275.5:c.*1475C>G (RAF1)	ENSP00000401088.1:n.*1475C>G
ENST00000432427.2:c.1435C>G (RAF1)	ENSP00000398591.2:p.Pro479Ala
ENST00000442415.6:c.1858C>G (RAF1)	ENSP00000401888.2:p.Pro620Ala
ENST00000471449.1:n.487C>G (RAF1)
NM_002880.3:c.1798C>G , LRG_413t1:c.1798C>G (RAF1)	NP_002871.1:p.Pro600Ala
XM_005265355.1:c.1798C>G (RAF1)	XP_005265412.1:p.Pro600Ala
XM_005265357.1:c.1699C>G (RAF1)	XP_005265414.1:p.Pro567Ala
XM_005265358.3:c.1555C>G (RAF1)	XP_005265415.1:p.Pro519Ala
XM_005265359.3:c.1456C>G (RAF1)	XP_005265416.1:p.Pro486Ala
XM_011533974.1:c.1798C>G (RAF1)	XP_011532276.1:p.Pro600Ala
XM_011533975.1:c.1555C>G (RAF1)	XP_011532277.1:p.Pro519Ala
NM_001354689.1:c.1858C>G (RAF1)	NP_001341618.1:p.Pro620Ala
NM_001354690.1:c.1798C>G (RAF1)	NP_001341619.1:p.Pro600Ala
NM_001354691.1:c.1555C>G (RAF1)	NP_001341620.1:p.Pro519Ala
NM_001354692.1:c.1555C>G (RAF1)	NP_001341621.1:p.Pro519Ala
NM_001354693.1:c.1699C>G (RAF1)	NP_001341622.1:p.Pro567Ala
NM_001354694.1:c.1615C>G (RAF1)	NP_001341623.1:p.Pro539Ala
NM_001354695.1:c.1456C>G (RAF1)	NP_001341624.1:p.Pro486Ala
NR_148940.1:n.2326C>G (RAF1)
NR_148941.1:n.2272C>G (RAF1)
NR_148942.1:n.2211C>G (RAF1)
XM_011533974.3:c.1798C>G (RAF1)	XP_011532276.1:p.Pro600Ala
XM_017006966.1:c.1699C>G (RAF1)	XP_016862455.1:p.Pro567Ala
NM_001354689.3:c.1858C>G (RAF1)	NP_001341618.1:p.Pro620Ala
NM_001354690.2:c.1798C>G (RAF1)	NP_001341619.1:p.Pro600Ala
NM_001354691.2:c.1555C>G (RAF1)	NP_001341620.1:p.Pro519Ala
NM_001354692.2:c.1555C>G (RAF1)	NP_001341621.1:p.Pro519Ala
NM_001354693.2:c.1699C>G (RAF1)	NP_001341622.1:p.Pro567Ala
NM_001354694.2:c.1615C>G (RAF1)	NP_001341623.1:p.Pro539Ala
NM_001354695.2:c.1456C>G (RAF1)	NP_001341624.1:p.Pro486Ala
NR_148940.2:n.2242C>G (RAF1)
NR_148941.2:n.2188C>G (RAF1)
NR_148942.2:n.2127C>G (RAF1)
NM_001354690.3:c.1798C>G (RAF1)	NP_001341619.1:p.Pro600Ala
NM_001354691.3:c.1555C>G (RAF1)	NP_001341620.1:p.Pro519Ala
NM_001354692.3:c.1555C>G (RAF1)	NP_001341621.1:p.Pro519Ala
NM_001354693.3:c.1699C>G (RAF1)	NP_001341622.1:p.Pro567Ala
NM_001354694.3:c.1615C>G (RAF1)	NP_001341623.1:p.Pro539Ala
NM_001354695.3:c.1456C>G (RAF1)	NP_001341624.1:p.Pro486Ala
NM_002880.4:c.1798C>G (RAF1) MANE Select	NP_002871.1:p.Pro600Ala
NR_148940.3:n.2242C>G (RAF1)
NR_148941.3:n.2188C>G (RAF1)
NR_148942.3:n.2127C>G (RAF1)