Canonical Allele Identifier: CA351496203

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12626141C>A (hg19) ; chr3:g.12584642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584642C>A , CM000665.2:g.12584642C>A	GRCh38
NC_000003.11:g.12626141C>A , CM000665.1:g.12626141C>A	GRCh37
NC_000003.10:g.12601141C>A	NCBI36
NG_007467.1:g.84538G>T , LRG_413:g.84538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1484G>T (RAF1)	ENSP00000401088.1:n.*1484G>T
ENST00000432427.3:c.1136G>T (RAF1)
ENST00000460610.2:n.6131G>T (RAF1)
ENST00000471449.2:n.629G>T (RAF1)
ENST00000475353.2:n.4099G>T (RAF1)
ENST00000684903.1:c.*1496G>T (RAF1)	ENSP00000508612.1:n.*1496G>T
ENST00000685348.1:c.*1530G>T (RAF1)	ENSP00000510285.1:n.*1530G>T
ENST00000685437.1:c.1720G>T (RAF1)	ENSP00000508794.1:p.Glu574Ter
ENST00000685653.1:c.1819G>T (RAF1)	ENSP00000509968.1:p.Glu607Ter
ENST00000685697.1:n.2554G>T (RAF1)
ENST00000685738.1:c.*783G>T (RAF1)	ENSP00000510156.1:n.*783G>T
ENST00000686409.1:n.5228G>T (RAF1)
ENST00000686455.1:n.4540G>T (RAF1)
ENST00000686762.1:c.*378G>T (RAF1)	ENSP00000509767.1:n.*378G>T
ENST00000687257.1:n.4273G>T (RAF1)
ENST00000687326.1:c.*3111G>T (RAF1)	ENSP00000509665.1:n.*3111G>T
ENST00000687505.1:n.1937G>T (RAF1)
ENST00000687923.1:c.1708G>T (RAF1)	ENSP00000510255.1:p.Glu570Ter
ENST00000688269.1:n.2415G>T (RAF1)
ENST00000688444.1:n.3936G>T (RAF1)
ENST00000688543.1:c.1720G>T (RAF1)	ENSP00000509612.1:p.Glu574Ter
ENST00000688625.1:c.*3188G>T (RAF1)	ENSP00000509522.1:n.*3188G>T
ENST00000688803.1:n.3247G>T (RAF1)
ENST00000689097.1:c.*1496G>T (RAF1)	ENSP00000509756.1:n.*1496G>T
ENST00000689389.1:c.1642G>T (RAF1)	ENSP00000510213.1:p.Glu548Ter
ENST00000689418.1:c.*3714G>T (RAF1)	ENSP00000509467.1:n.*3714G>T
ENST00000689540.1:n.4187G>T (RAF1)
ENST00000689876.1:c.*368G>T (RAF1)	ENSP00000508535.1:n.*368G>T
ENST00000689914.1:c.*753G>T (RAF1)	ENSP00000509847.1:n.*753G>T
ENST00000690397.1:c.1708G>T (RAF1)	ENSP00000508730.1:p.Glu570Ter
ENST00000690460.1:c.1807G>T (RAF1)	ENSP00000509106.1:p.Glu603Ter
ENST00000690585.1:c.545G>T (RAF1)
ENST00000690625.1:n.2855G>T (RAF1)
ENST00000691396.1:c.*1691G>T (RAF1)	ENSP00000510712.1:n.*1691G>T
ENST00000691643.1:n.2872G>T (RAF1)
ENST00000691724.1:c.*776G>T (RAF1)	ENSP00000509255.1:n.*776G>T
ENST00000691779.1:c.*1397G>T (RAF1)	ENSP00000508592.1:n.*1397G>T
ENST00000691888.1:c.693G>T (RAF1)
ENST00000691899.1:c.1819G>T (RAF1)	ENSP00000508763.1:p.Glu607Ter
ENST00000692069.1:n.4743G>T (RAF1)
ENST00000692093.1:c.1720G>T (RAF1)	ENSP00000509669.1:p.Glu574Ter
ENST00000692311.1:n.2643G>T (RAF1)
ENST00000692558.1:n.4402G>T (RAF1)
ENST00000692773.1:c.*1556G>T (RAF1)	ENSP00000509055.1:n.*1556G>T
ENST00000692830.1:c.*1564G>T (RAF1)	ENSP00000509461.1:n.*1564G>T
ENST00000693312.1:c.1594G>T (RAF1)	ENSP00000508686.1:p.Glu532Ter
ENST00000693664.1:c.*270G>T (RAF1)	ENSP00000509614.1:n.*270G>T
ENST00000693705.1:c.*1198G>T (RAF1)	ENSP00000510697.1:n.*1198G>T
ENST00000251849.9:c.1819G>T (RAF1) MANE Select	ENSP00000251849.4:p.Glu607Ter
ENST00000442415.7:c.1879G>T (RAF1)	ENSP00000401888.2:p.Glu627Ter
ENST00000676541.1:c.*2389C>A (MKRN2)	ENSP00000503730.1:n.*2389C>A
ENST00000677142.1:c.*2389C>A (MKRN2)	ENSP00000504455.1:n.*2389C>A
ENST00000677816.1:c.*944C>A (MKRN2)	ENSP00000502893.1:n.*944C>A
ENST00000677941.1:n.2452C>A (MKRN2)
ENST00000251849.8:c.1819G>T (RAF1)	ENSP00000251849.4:p.Glu607Ter
ENST00000423275.5:c.*1496G>T (RAF1)	ENSP00000401088.1:n.*1496G>T
ENST00000432427.2:c.1456G>T (RAF1)	ENSP00000398591.2:p.Glu486Ter
ENST00000442415.6:c.1879G>T (RAF1)	ENSP00000401888.2:p.Glu627Ter
ENST00000471449.1:n.508G>T (RAF1)
NM_002880.3:c.1819G>T , LRG_413t1:c.1819G>T (RAF1)	NP_002871.1:p.Glu607Ter
XM_005265355.1:c.1819G>T (RAF1)	XP_005265412.1:p.Glu607Ter
XM_005265357.1:c.1720G>T (RAF1)	XP_005265414.1:p.Glu574Ter
XM_005265358.3:c.1576G>T (RAF1)	XP_005265415.1:p.Glu526Ter
XM_005265359.3:c.1477G>T (RAF1)	XP_005265416.1:p.Glu493Ter
XM_011533974.1:c.1819G>T (RAF1)	XP_011532276.1:p.Glu607Ter
XM_011533975.1:c.1576G>T (RAF1)	XP_011532277.1:p.Glu526Ter
NM_001354689.1:c.1879G>T (RAF1)	NP_001341618.1:p.Glu627Ter
NM_001354690.1:c.1819G>T (RAF1)	NP_001341619.1:p.Glu607Ter
NM_001354691.1:c.1576G>T (RAF1)	NP_001341620.1:p.Glu526Ter
NM_001354692.1:c.1576G>T (RAF1)	NP_001341621.1:p.Glu526Ter
NM_001354693.1:c.1720G>T (RAF1)	NP_001341622.1:p.Glu574Ter
NM_001354694.1:c.1636G>T (RAF1)	NP_001341623.1:p.Glu546Ter
NM_001354695.1:c.1477G>T (RAF1)	NP_001341624.1:p.Glu493Ter
NR_148940.1:n.2347G>T (RAF1)
NR_148941.1:n.2293G>T (RAF1)
NR_148942.1:n.2232G>T (RAF1)
XM_011533974.3:c.1819G>T (RAF1)	XP_011532276.1:p.Glu607Ter
XM_017006966.1:c.1720G>T (RAF1)	XP_016862455.1:p.Glu574Ter
NM_001354689.3:c.1879G>T (RAF1)	NP_001341618.1:p.Glu627Ter
NM_001354690.2:c.1819G>T (RAF1)	NP_001341619.1:p.Glu607Ter
NM_001354691.2:c.1576G>T (RAF1)	NP_001341620.1:p.Glu526Ter
NM_001354692.2:c.1576G>T (RAF1)	NP_001341621.1:p.Glu526Ter
NM_001354693.2:c.1720G>T (RAF1)	NP_001341622.1:p.Glu574Ter
NM_001354694.2:c.1636G>T (RAF1)	NP_001341623.1:p.Glu546Ter
NM_001354695.2:c.1477G>T (RAF1)	NP_001341624.1:p.Glu493Ter
NR_148940.2:n.2263G>T (RAF1)
NR_148941.2:n.2209G>T (RAF1)
NR_148942.2:n.2148G>T (RAF1)
NM_001354690.3:c.1819G>T (RAF1)	NP_001341619.1:p.Glu607Ter
NM_001354691.3:c.1576G>T (RAF1)	NP_001341620.1:p.Glu526Ter
NM_001354692.3:c.1576G>T (RAF1)	NP_001341621.1:p.Glu526Ter
NM_001354693.3:c.1720G>T (RAF1)	NP_001341622.1:p.Glu574Ter
NM_001354694.3:c.1636G>T (RAF1)	NP_001341623.1:p.Glu546Ter
NM_001354695.3:c.1477G>T (RAF1)	NP_001341624.1:p.Glu493Ter
NM_002880.4:c.1819G>T (RAF1) MANE Select	NP_002871.1:p.Glu607Ter
NR_148940.3:n.2263G>T (RAF1)
NR_148941.3:n.2209G>T (RAF1)
NR_148942.3:n.2148G>T (RAF1)