Canonical Allele Identifier: CA351495578

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125315981
• gnomAD v4: 3-12584549-T-C
• MyVariant Identifiers: chr3:g.12626048T>C (hg19) ; chr3:g.12584549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584549T>C , CM000665.2:g.12584549T>C	GRCh38
NC_000003.11:g.12626048T>C , CM000665.1:g.12626048T>C	GRCh37
NC_000003.10:g.12601048T>C	NCBI36
NG_007467.1:g.84631A>G , LRG_413:g.84631A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1577A>G (RAF1)	ENSP00000401088.1:n.*1577A>G
ENST00000432427.3:c.1229A>G (RAF1)
ENST00000460610.2:n.6224A>G (RAF1)
ENST00000471449.2:n.722A>G (RAF1)
ENST00000475353.2:n.4192A>G (RAF1)
ENST00000684903.1:c.*1589A>G (RAF1)	ENSP00000508612.1:n.*1589A>G
ENST00000685348.1:c.*1623A>G (RAF1)	ENSP00000510285.1:n.*1623A>G
ENST00000685437.1:c.1813A>G (RAF1)	ENSP00000508794.1:p.Thr605Ala
ENST00000685653.1:c.1912A>G (RAF1)	ENSP00000509968.1:p.Thr638Ala
ENST00000685697.1:n.2647A>G (RAF1)
ENST00000685738.1:c.*876A>G (RAF1)	ENSP00000510156.1:n.*876A>G
ENST00000686409.1:n.5321A>G (RAF1)
ENST00000686455.1:n.4633A>G (RAF1)
ENST00000686762.1:c.*471A>G (RAF1)	ENSP00000509767.1:n.*471A>G
ENST00000687257.1:n.4366A>G (RAF1)
ENST00000687326.1:c.*3204A>G (RAF1)	ENSP00000509665.1:n.*3204A>G
ENST00000687505.1:n.2030A>G (RAF1)
ENST00000687923.1:c.1801A>G (RAF1)	ENSP00000510255.1:p.Thr601Ala
ENST00000688269.1:n.2508A>G (RAF1)
ENST00000688444.1:n.4029A>G (RAF1)
ENST00000688543.1:c.1813A>G (RAF1)	ENSP00000509612.1:p.Thr605Ala
ENST00000688625.1:c.*3281A>G (RAF1)	ENSP00000509522.1:n.*3281A>G
ENST00000688803.1:n.3340A>G (RAF1)
ENST00000689097.1:c.*1589A>G (RAF1)	ENSP00000509756.1:n.*1589A>G
ENST00000689389.1:c.1735A>G (RAF1)	ENSP00000510213.1:p.Thr579Ala
ENST00000689418.1:c.*3807A>G (RAF1)	ENSP00000509467.1:n.*3807A>G
ENST00000689540.1:n.4280A>G (RAF1)
ENST00000689876.1:c.*461A>G (RAF1)	ENSP00000508535.1:n.*461A>G
ENST00000689914.1:c.*846A>G (RAF1)	ENSP00000509847.1:n.*846A>G
ENST00000690397.1:c.1801A>G (RAF1)	ENSP00000508730.1:p.Thr601Ala
ENST00000690460.1:c.1900A>G (RAF1)	ENSP00000509106.1:p.Thr634Ala
ENST00000690585.1:c.638A>G (RAF1)
ENST00000690625.1:n.2948A>G (RAF1)
ENST00000691396.1:c.*1784A>G (RAF1)	ENSP00000510712.1:n.*1784A>G
ENST00000691643.1:n.2965A>G (RAF1)
ENST00000691724.1:c.*869A>G (RAF1)	ENSP00000509255.1:n.*869A>G
ENST00000691779.1:c.*1490A>G (RAF1)	ENSP00000508592.1:n.*1490A>G
ENST00000691888.1:c.786A>G (RAF1)
ENST00000691899.1:c.1912A>G (RAF1)	ENSP00000508763.1:p.Thr638Ala
ENST00000692069.1:n.4836A>G (RAF1)
ENST00000692093.1:c.1813A>G (RAF1)	ENSP00000509669.1:p.Thr605Ala
ENST00000692311.1:n.2736A>G (RAF1)
ENST00000692558.1:n.4495A>G (RAF1)
ENST00000692773.1:c.*1649A>G (RAF1)	ENSP00000509055.1:n.*1649A>G
ENST00000692830.1:c.*1657A>G (RAF1)	ENSP00000509461.1:n.*1657A>G
ENST00000693312.1:c.1687A>G (RAF1)	ENSP00000508686.1:p.Thr563Ala
ENST00000693664.1:c.*363A>G (RAF1)	ENSP00000509614.1:n.*363A>G
ENST00000693705.1:c.*1291A>G (RAF1)	ENSP00000510697.1:n.*1291A>G
ENST00000251849.9:c.1912A>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr638Ala
ENST00000442415.7:c.1972A>G (RAF1)	ENSP00000401888.2:p.Thr658Ala
ENST00000676541.1:c.*2296T>C (MKRN2)	ENSP00000503730.1:n.*2296T>C
ENST00000677142.1:c.*2296T>C (MKRN2)	ENSP00000504455.1:n.*2296T>C
ENST00000677816.1:c.*851T>C (MKRN2)	ENSP00000502893.1:n.*851T>C
ENST00000677941.1:n.2359T>C (MKRN2)
ENST00000251849.8:c.1912A>G (RAF1)	ENSP00000251849.4:p.Thr638Ala
ENST00000423275.5:c.*1589A>G (RAF1)	ENSP00000401088.1:n.*1589A>G
ENST00000432427.2:c.1549A>G (RAF1)	ENSP00000398591.2:p.Thr517Ala
ENST00000442415.6:c.1972A>G (RAF1)	ENSP00000401888.2:p.Thr658Ala
ENST00000471449.1:n.601A>G (RAF1)
NM_002880.3:c.1912A>G , LRG_413t1:c.1912A>G (RAF1)	NP_002871.1:p.Thr638Ala
XM_005265355.1:c.1912A>G (RAF1)	XP_005265412.1:p.Thr638Ala
XM_005265357.1:c.1813A>G (RAF1)	XP_005265414.1:p.Thr605Ala
XM_005265358.3:c.1669A>G (RAF1)	XP_005265415.1:p.Thr557Ala
XM_005265359.3:c.1570A>G (RAF1)	XP_005265416.1:p.Thr524Ala
XM_011533974.1:c.1912A>G (RAF1)	XP_011532276.1:p.Thr638Ala
XM_011533975.1:c.1669A>G (RAF1)	XP_011532277.1:p.Thr557Ala
NM_001354689.1:c.1972A>G (RAF1)	NP_001341618.1:p.Thr658Ala
NM_001354690.1:c.1912A>G (RAF1)	NP_001341619.1:p.Thr638Ala
NM_001354691.1:c.1669A>G (RAF1)	NP_001341620.1:p.Thr557Ala
NM_001354692.1:c.1669A>G (RAF1)	NP_001341621.1:p.Thr557Ala
NM_001354693.1:c.1813A>G (RAF1)	NP_001341622.1:p.Thr605Ala
NM_001354694.1:c.1729A>G (RAF1)	NP_001341623.1:p.Thr577Ala
NM_001354695.1:c.1570A>G (RAF1)	NP_001341624.1:p.Thr524Ala
NR_148940.1:n.2440A>G (RAF1)
NR_148941.1:n.2386A>G (RAF1)
NR_148942.1:n.2325A>G (RAF1)
XM_011533974.3:c.1912A>G (RAF1)	XP_011532276.1:p.Thr638Ala
XM_017006966.1:c.1813A>G (RAF1)	XP_016862455.1:p.Thr605Ala
NM_001354689.3:c.1972A>G (RAF1)	NP_001341618.1:p.Thr658Ala
NM_001354690.2:c.1912A>G (RAF1)	NP_001341619.1:p.Thr638Ala
NM_001354691.2:c.1669A>G (RAF1)	NP_001341620.1:p.Thr557Ala
NM_001354692.2:c.1669A>G (RAF1)	NP_001341621.1:p.Thr557Ala
NM_001354693.2:c.1813A>G (RAF1)	NP_001341622.1:p.Thr605Ala
NM_001354694.2:c.1729A>G (RAF1)	NP_001341623.1:p.Thr577Ala
NM_001354695.2:c.1570A>G (RAF1)	NP_001341624.1:p.Thr524Ala
NR_148940.2:n.2356A>G (RAF1)
NR_148941.2:n.2302A>G (RAF1)
NR_148942.2:n.2241A>G (RAF1)
NM_001354690.3:c.1912A>G (RAF1)	NP_001341619.1:p.Thr638Ala
NM_001354691.3:c.1669A>G (RAF1)	NP_001341620.1:p.Thr557Ala
NM_001354692.3:c.1669A>G (RAF1)	NP_001341621.1:p.Thr557Ala
NM_001354693.3:c.1813A>G (RAF1)	NP_001341622.1:p.Thr605Ala
NM_001354694.3:c.1729A>G (RAF1)	NP_001341623.1:p.Thr577Ala
NM_001354695.3:c.1570A>G (RAF1)	NP_001341624.1:p.Thr524Ala
NM_002880.4:c.1912A>G (RAF1) MANE Select	NP_002871.1:p.Thr638Ala
NR_148940.3:n.2356A>G (RAF1)
NR_148941.3:n.2302A>G (RAF1)
NR_148942.3:n.2241A>G (RAF1)