Canonical Allele Identifier: CA351495512

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626042T>C (hg19) ; chr3:g.12584543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584543T>C , CM000665.2:g.12584543T>C	GRCh38
NC_000003.11:g.12626042T>C , CM000665.1:g.12626042T>C	GRCh37
NC_000003.10:g.12601042T>C	NCBI36
NG_007467.1:g.84637A>G , LRG_413:g.84637A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1583A>G (RAF1)	ENSP00000401088.1:n.*1583A>G
ENST00000432427.3:c.1235A>G (RAF1)
ENST00000460610.2:n.6230A>G (RAF1)
ENST00000471449.2:n.728A>G (RAF1)
ENST00000475353.2:n.4198A>G (RAF1)
ENST00000684903.1:c.*1595A>G (RAF1)	ENSP00000508612.1:n.*1595A>G
ENST00000685348.1:c.*1629A>G (RAF1)	ENSP00000510285.1:n.*1629A>G
ENST00000685437.1:c.1819A>G (RAF1)	ENSP00000508794.1:p.Thr607Ala
ENST00000685653.1:c.1918A>G (RAF1)	ENSP00000509968.1:p.Thr640Ala
ENST00000685697.1:n.2653A>G (RAF1)
ENST00000685738.1:c.*882A>G (RAF1)	ENSP00000510156.1:n.*882A>G
ENST00000686409.1:n.5327A>G (RAF1)
ENST00000686455.1:n.4639A>G (RAF1)
ENST00000686762.1:c.*477A>G (RAF1)	ENSP00000509767.1:n.*477A>G
ENST00000687257.1:n.4372A>G (RAF1)
ENST00000687326.1:c.*3210A>G (RAF1)	ENSP00000509665.1:n.*3210A>G
ENST00000687505.1:n.2036A>G (RAF1)
ENST00000687923.1:c.1807A>G (RAF1)	ENSP00000510255.1:p.Thr603Ala
ENST00000688269.1:n.2514A>G (RAF1)
ENST00000688444.1:n.4035A>G (RAF1)
ENST00000688543.1:c.1819A>G (RAF1)	ENSP00000509612.1:p.Thr607Ala
ENST00000688625.1:c.*3287A>G (RAF1)	ENSP00000509522.1:n.*3287A>G
ENST00000688803.1:n.3346A>G (RAF1)
ENST00000689097.1:c.*1595A>G (RAF1)	ENSP00000509756.1:n.*1595A>G
ENST00000689389.1:c.1741A>G (RAF1)	ENSP00000510213.1:p.Thr581Ala
ENST00000689418.1:c.*3813A>G (RAF1)	ENSP00000509467.1:n.*3813A>G
ENST00000689540.1:n.4286A>G (RAF1)
ENST00000689876.1:c.*467A>G (RAF1)	ENSP00000508535.1:n.*467A>G
ENST00000689914.1:c.*852A>G (RAF1)	ENSP00000509847.1:n.*852A>G
ENST00000690397.1:c.1807A>G (RAF1)	ENSP00000508730.1:p.Thr603Ala
ENST00000690460.1:c.1906A>G (RAF1)	ENSP00000509106.1:p.Thr636Ala
ENST00000690585.1:c.644A>G (RAF1)
ENST00000690625.1:n.2954A>G (RAF1)
ENST00000691396.1:c.*1790A>G (RAF1)	ENSP00000510712.1:n.*1790A>G
ENST00000691643.1:n.2971A>G (RAF1)
ENST00000691724.1:c.*875A>G (RAF1)	ENSP00000509255.1:n.*875A>G
ENST00000691779.1:c.*1496A>G (RAF1)	ENSP00000508592.1:n.*1496A>G
ENST00000691888.1:c.792A>G (RAF1)
ENST00000691899.1:c.1918A>G (RAF1)	ENSP00000508763.1:p.Thr640Ala
ENST00000692069.1:n.4842A>G (RAF1)
ENST00000692093.1:c.1819A>G (RAF1)	ENSP00000509669.1:p.Thr607Ala
ENST00000692311.1:n.2742A>G (RAF1)
ENST00000692558.1:n.4501A>G (RAF1)
ENST00000692773.1:c.*1655A>G (RAF1)	ENSP00000509055.1:n.*1655A>G
ENST00000692830.1:c.*1663A>G (RAF1)	ENSP00000509461.1:n.*1663A>G
ENST00000693312.1:c.1693A>G (RAF1)	ENSP00000508686.1:p.Thr565Ala
ENST00000693664.1:c.*369A>G (RAF1)	ENSP00000509614.1:n.*369A>G
ENST00000693705.1:c.*1297A>G (RAF1)	ENSP00000510697.1:n.*1297A>G
ENST00000251849.9:c.1918A>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr640Ala
ENST00000442415.7:c.1978A>G (RAF1)	ENSP00000401888.2:p.Thr660Ala
ENST00000676541.1:c.*2290T>C (MKRN2)	ENSP00000503730.1:n.*2290T>C
ENST00000677142.1:c.*2290T>C (MKRN2)	ENSP00000504455.1:n.*2290T>C
ENST00000677816.1:c.*845T>C (MKRN2)	ENSP00000502893.1:n.*845T>C
ENST00000677941.1:n.2353T>C (MKRN2)
ENST00000251849.8:c.1918A>G (RAF1)	ENSP00000251849.4:p.Thr640Ala
ENST00000423275.5:c.*1595A>G (RAF1)	ENSP00000401088.1:n.*1595A>G
ENST00000432427.2:c.1555A>G (RAF1)	ENSP00000398591.2:p.Thr519Ala
ENST00000442415.6:c.1978A>G (RAF1)	ENSP00000401888.2:p.Thr660Ala
ENST00000471449.1:n.607A>G (RAF1)
NM_002880.3:c.1918A>G , LRG_413t1:c.1918A>G (RAF1)	NP_002871.1:p.Thr640Ala
XM_005265355.1:c.1918A>G (RAF1)	XP_005265412.1:p.Thr640Ala
XM_005265357.1:c.1819A>G (RAF1)	XP_005265414.1:p.Thr607Ala
XM_005265358.3:c.1675A>G (RAF1)	XP_005265415.1:p.Thr559Ala
XM_005265359.3:c.1576A>G (RAF1)	XP_005265416.1:p.Thr526Ala
XM_011533974.1:c.1918A>G (RAF1)	XP_011532276.1:p.Thr640Ala
XM_011533975.1:c.1675A>G (RAF1)	XP_011532277.1:p.Thr559Ala
NM_001354689.1:c.1978A>G (RAF1)	NP_001341618.1:p.Thr660Ala
NM_001354690.1:c.1918A>G (RAF1)	NP_001341619.1:p.Thr640Ala
NM_001354691.1:c.1675A>G (RAF1)	NP_001341620.1:p.Thr559Ala
NM_001354692.1:c.1675A>G (RAF1)	NP_001341621.1:p.Thr559Ala
NM_001354693.1:c.1819A>G (RAF1)	NP_001341622.1:p.Thr607Ala
NM_001354694.1:c.1735A>G (RAF1)	NP_001341623.1:p.Thr579Ala
NM_001354695.1:c.1576A>G (RAF1)	NP_001341624.1:p.Thr526Ala
NR_148940.1:n.2446A>G (RAF1)
NR_148941.1:n.2392A>G (RAF1)
NR_148942.1:n.2331A>G (RAF1)
XM_011533974.3:c.1918A>G (RAF1)	XP_011532276.1:p.Thr640Ala
XM_017006966.1:c.1819A>G (RAF1)	XP_016862455.1:p.Thr607Ala
NM_001354689.3:c.1978A>G (RAF1)	NP_001341618.1:p.Thr660Ala
NM_001354690.2:c.1918A>G (RAF1)	NP_001341619.1:p.Thr640Ala
NM_001354691.2:c.1675A>G (RAF1)	NP_001341620.1:p.Thr559Ala
NM_001354692.2:c.1675A>G (RAF1)	NP_001341621.1:p.Thr559Ala
NM_001354693.2:c.1819A>G (RAF1)	NP_001341622.1:p.Thr607Ala
NM_001354694.2:c.1735A>G (RAF1)	NP_001341623.1:p.Thr579Ala
NM_001354695.2:c.1576A>G (RAF1)	NP_001341624.1:p.Thr526Ala
NR_148940.2:n.2362A>G (RAF1)
NR_148941.2:n.2308A>G (RAF1)
NR_148942.2:n.2247A>G (RAF1)
NM_001354690.3:c.1918A>G (RAF1)	NP_001341619.1:p.Thr640Ala
NM_001354691.3:c.1675A>G (RAF1)	NP_001341620.1:p.Thr559Ala
NM_001354692.3:c.1675A>G (RAF1)	NP_001341621.1:p.Thr559Ala
NM_001354693.3:c.1819A>G (RAF1)	NP_001341622.1:p.Thr607Ala
NM_001354694.3:c.1735A>G (RAF1)	NP_001341623.1:p.Thr579Ala
NM_001354695.3:c.1576A>G (RAF1)	NP_001341624.1:p.Thr526Ala
NM_002880.4:c.1918A>G (RAF1) MANE Select	NP_002871.1:p.Thr640Ala
NR_148940.3:n.2362A>G (RAF1)
NR_148941.3:n.2308A>G (RAF1)
NR_148942.3:n.2247A>G (RAF1)