Canonical Allele Identifier: CA351496223

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584644-A-G
• MyVariant Identifiers: chr3:g.12626143A>G (hg19) ; chr3:g.12584644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584644A>G , CM000665.2:g.12584644A>G	GRCh38
NC_000003.11:g.12626143A>G , CM000665.1:g.12626143A>G	GRCh37
NC_000003.10:g.12601143A>G	NCBI36
NG_007467.1:g.84536T>C , LRG_413:g.84536T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1482T>C (RAF1)	ENSP00000401088.1:n.*1482T>C
ENST00000432427.3:c.1134T>C (RAF1)
ENST00000460610.2:n.6129T>C (RAF1)
ENST00000471449.2:n.627T>C (RAF1)
ENST00000475353.2:n.4097T>C (RAF1)
ENST00000684903.1:c.*1494T>C (RAF1)	ENSP00000508612.1:n.*1494T>C
ENST00000685348.1:c.*1528T>C (RAF1)	ENSP00000510285.1:n.*1528T>C
ENST00000685437.1:c.1718T>C (RAF1)	ENSP00000508794.1:p.Ile573Thr
ENST00000685653.1:c.1817T>C (RAF1)	ENSP00000509968.1:p.Ile606Thr
ENST00000685697.1:n.2552T>C (RAF1)
ENST00000685738.1:c.*781T>C (RAF1)	ENSP00000510156.1:n.*781T>C
ENST00000686409.1:n.5226T>C (RAF1)
ENST00000686455.1:n.4538T>C (RAF1)
ENST00000686762.1:c.*376T>C (RAF1)	ENSP00000509767.1:n.*376T>C
ENST00000687257.1:n.4271T>C (RAF1)
ENST00000687326.1:c.*3109T>C (RAF1)	ENSP00000509665.1:n.*3109T>C
ENST00000687505.1:n.1935T>C (RAF1)
ENST00000687923.1:c.1706T>C (RAF1)	ENSP00000510255.1:p.Ile569Thr
ENST00000688269.1:n.2413T>C (RAF1)
ENST00000688444.1:n.3934T>C (RAF1)
ENST00000688543.1:c.1718T>C (RAF1)	ENSP00000509612.1:p.Ile573Thr
ENST00000688625.1:c.*3186T>C (RAF1)	ENSP00000509522.1:n.*3186T>C
ENST00000688803.1:n.3245T>C (RAF1)
ENST00000689097.1:c.*1494T>C (RAF1)	ENSP00000509756.1:n.*1494T>C
ENST00000689389.1:c.1640T>C (RAF1)	ENSP00000510213.1:p.Ile547Thr
ENST00000689418.1:c.*3712T>C (RAF1)	ENSP00000509467.1:n.*3712T>C
ENST00000689540.1:n.4185T>C (RAF1)
ENST00000689876.1:c.*366T>C (RAF1)	ENSP00000508535.1:n.*366T>C
ENST00000689914.1:c.*751T>C (RAF1)	ENSP00000509847.1:n.*751T>C
ENST00000690397.1:c.1706T>C (RAF1)	ENSP00000508730.1:p.Ile569Thr
ENST00000690460.1:c.1805T>C (RAF1)	ENSP00000509106.1:p.Ile602Thr
ENST00000690585.1:c.543T>C (RAF1)
ENST00000690625.1:n.2853T>C (RAF1)
ENST00000691396.1:c.*1689T>C (RAF1)	ENSP00000510712.1:n.*1689T>C
ENST00000691643.1:n.2870T>C (RAF1)
ENST00000691724.1:c.*774T>C (RAF1)	ENSP00000509255.1:n.*774T>C
ENST00000691779.1:c.*1395T>C (RAF1)	ENSP00000508592.1:n.*1395T>C
ENST00000691888.1:c.691T>C (RAF1)
ENST00000691899.1:c.1817T>C (RAF1)	ENSP00000508763.1:p.Ile606Thr
ENST00000692069.1:n.4741T>C (RAF1)
ENST00000692093.1:c.1718T>C (RAF1)	ENSP00000509669.1:p.Ile573Thr
ENST00000692311.1:n.2641T>C (RAF1)
ENST00000692558.1:n.4400T>C (RAF1)
ENST00000692773.1:c.*1554T>C (RAF1)	ENSP00000509055.1:n.*1554T>C
ENST00000692830.1:c.*1562T>C (RAF1)	ENSP00000509461.1:n.*1562T>C
ENST00000693312.1:c.1592T>C (RAF1)	ENSP00000508686.1:p.Ile531Thr
ENST00000693664.1:c.*268T>C (RAF1)	ENSP00000509614.1:n.*268T>C
ENST00000693705.1:c.*1196T>C (RAF1)	ENSP00000510697.1:n.*1196T>C
ENST00000251849.9:c.1817T>C (RAF1) MANE Select	ENSP00000251849.4:p.Ile606Thr
ENST00000442415.7:c.1877T>C (RAF1)	ENSP00000401888.2:p.Ile626Thr
ENST00000676541.1:c.*2391A>G (MKRN2)	ENSP00000503730.1:n.*2391A>G
ENST00000677142.1:c.*2391A>G (MKRN2)	ENSP00000504455.1:n.*2391A>G
ENST00000677816.1:c.*946A>G (MKRN2)	ENSP00000502893.1:n.*946A>G
ENST00000677941.1:n.2454A>G (MKRN2)
ENST00000251849.8:c.1817T>C (RAF1)	ENSP00000251849.4:p.Ile606Thr
ENST00000423275.5:c.*1494T>C (RAF1)	ENSP00000401088.1:n.*1494T>C
ENST00000432427.2:c.1454T>C (RAF1)	ENSP00000398591.2:p.Ile485Thr
ENST00000442415.6:c.1877T>C (RAF1)	ENSP00000401888.2:p.Ile626Thr
ENST00000471449.1:n.506T>C (RAF1)
NM_002880.3:c.1817T>C , LRG_413t1:c.1817T>C (RAF1)	NP_002871.1:p.Ile606Thr
XM_005265355.1:c.1817T>C (RAF1)	XP_005265412.1:p.Ile606Thr
XM_005265357.1:c.1718T>C (RAF1)	XP_005265414.1:p.Ile573Thr
XM_005265358.3:c.1574T>C (RAF1)	XP_005265415.1:p.Ile525Thr
XM_005265359.3:c.1475T>C (RAF1)	XP_005265416.1:p.Ile492Thr
XM_011533974.1:c.1817T>C (RAF1)	XP_011532276.1:p.Ile606Thr
XM_011533975.1:c.1574T>C (RAF1)	XP_011532277.1:p.Ile525Thr
NM_001354689.1:c.1877T>C (RAF1)	NP_001341618.1:p.Ile626Thr
NM_001354690.1:c.1817T>C (RAF1)	NP_001341619.1:p.Ile606Thr
NM_001354691.1:c.1574T>C (RAF1)	NP_001341620.1:p.Ile525Thr
NM_001354692.1:c.1574T>C (RAF1)	NP_001341621.1:p.Ile525Thr
NM_001354693.1:c.1718T>C (RAF1)	NP_001341622.1:p.Ile573Thr
NM_001354694.1:c.1634T>C (RAF1)	NP_001341623.1:p.Ile545Thr
NM_001354695.1:c.1475T>C (RAF1)	NP_001341624.1:p.Ile492Thr
NR_148940.1:n.2345T>C (RAF1)
NR_148941.1:n.2291T>C (RAF1)
NR_148942.1:n.2230T>C (RAF1)
XM_011533974.3:c.1817T>C (RAF1)	XP_011532276.1:p.Ile606Thr
XM_017006966.1:c.1718T>C (RAF1)	XP_016862455.1:p.Ile573Thr
NM_001354689.3:c.1877T>C (RAF1)	NP_001341618.1:p.Ile626Thr
NM_001354690.2:c.1817T>C (RAF1)	NP_001341619.1:p.Ile606Thr
NM_001354691.2:c.1574T>C (RAF1)	NP_001341620.1:p.Ile525Thr
NM_001354692.2:c.1574T>C (RAF1)	NP_001341621.1:p.Ile525Thr
NM_001354693.2:c.1718T>C (RAF1)	NP_001341622.1:p.Ile573Thr
NM_001354694.2:c.1634T>C (RAF1)	NP_001341623.1:p.Ile545Thr
NM_001354695.2:c.1475T>C (RAF1)	NP_001341624.1:p.Ile492Thr
NR_148940.2:n.2261T>C (RAF1)
NR_148941.2:n.2207T>C (RAF1)
NR_148942.2:n.2146T>C (RAF1)
NM_001354690.3:c.1817T>C (RAF1)	NP_001341619.1:p.Ile606Thr
NM_001354691.3:c.1574T>C (RAF1)	NP_001341620.1:p.Ile525Thr
NM_001354692.3:c.1574T>C (RAF1)	NP_001341621.1:p.Ile525Thr
NM_001354693.3:c.1718T>C (RAF1)	NP_001341622.1:p.Ile573Thr
NM_001354694.3:c.1634T>C (RAF1)	NP_001341623.1:p.Ile545Thr
NM_001354695.3:c.1475T>C (RAF1)	NP_001341624.1:p.Ile492Thr
NM_002880.4:c.1817T>C (RAF1) MANE Select	NP_002871.1:p.Ile606Thr
NR_148940.3:n.2261T>C (RAF1)
NR_148941.3:n.2207T>C (RAF1)
NR_148942.3:n.2146T>C (RAF1)