Canonical Allele Identifier: CA351496971

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125319966
• gnomAD v4: 3-12584959-C-T
• MyVariant Identifiers: chr3:g.12626458C>T (hg19) ; chr3:g.12584959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584959C>T , CM000665.2:g.12584959C>T	GRCh38
NC_000003.11:g.12626458C>T , CM000665.1:g.12626458C>T	GRCh37
NC_000003.10:g.12601458C>T	NCBI36
NG_007467.1:g.84221G>A , LRG_413:g.84221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1356G>A (RAF1)	ENSP00000401088.1:n.*1356G>A
ENST00000432427.3:c.1008G>A (RAF1)
ENST00000460610.2:n.6003G>A (RAF1)
ENST00000471449.2:n.501G>A (RAF1)
ENST00000475353.2:n.3971G>A (RAF1)
ENST00000684903.1:c.*1368G>A (RAF1)	ENSP00000508612.1:n.*1368G>A
ENST00000685348.1:c.*1402G>A (RAF1)	ENSP00000510285.1:n.*1402G>A
ENST00000685437.1:c.1592G>A (RAF1)	ENSP00000508794.1:p.Gly531Glu
ENST00000685653.1:c.1691G>A (RAF1)	ENSP00000509968.1:p.Gly564Glu
ENST00000685697.1:n.2426G>A (RAF1)
ENST00000685738.1:c.*655G>A (RAF1)	ENSP00000510156.1:n.*655G>A
ENST00000686409.1:n.5100G>A (RAF1)
ENST00000686455.1:n.4412G>A (RAF1)
ENST00000686762.1:c.*250G>A (RAF1)	ENSP00000509767.1:n.*250G>A
ENST00000687257.1:n.4145G>A (RAF1)
ENST00000687326.1:c.*2983G>A (RAF1)	ENSP00000509665.1:n.*2983G>A
ENST00000687505.1:n.1809G>A (RAF1)
ENST00000687923.1:c.1580G>A (RAF1)	ENSP00000510255.1:p.Gly527Glu
ENST00000688269.1:n.2287G>A (RAF1)
ENST00000688444.1:n.3808G>A (RAF1)
ENST00000688543.1:c.1592G>A (RAF1)	ENSP00000509612.1:p.Gly531Glu
ENST00000688625.1:c.*3060G>A (RAF1)	ENSP00000509522.1:n.*3060G>A
ENST00000688803.1:n.3119G>A (RAF1)
ENST00000688914.1:n.1104G>A (RAF1)
ENST00000689097.1:c.*1368G>A (RAF1)	ENSP00000509756.1:n.*1368G>A
ENST00000689389.1:c.1514G>A (RAF1)	ENSP00000510213.1:p.Gly505Glu
ENST00000689418.1:c.*3586G>A (RAF1)	ENSP00000509467.1:n.*3586G>A
ENST00000689540.1:n.4059G>A (RAF1)
ENST00000689876.1:c.*240G>A (RAF1)	ENSP00000508535.1:n.*240G>A
ENST00000689914.1:c.*625G>A (RAF1)	ENSP00000509847.1:n.*625G>A
ENST00000690397.1:c.1580G>A (RAF1)	ENSP00000508730.1:p.Gly527Glu
ENST00000690460.1:c.1679G>A (RAF1)	ENSP00000509106.1:p.Gly560Glu
ENST00000690585.1:c.417G>A (RAF1)
ENST00000690625.1:n.2727G>A (RAF1)
ENST00000691396.1:c.*1563G>A (RAF1)	ENSP00000510712.1:n.*1563G>A
ENST00000691643.1:n.2744G>A (RAF1)
ENST00000691724.1:c.*648G>A (RAF1)	ENSP00000509255.1:n.*648G>A
ENST00000691779.1:c.*1269G>A (RAF1)	ENSP00000508592.1:n.*1269G>A
ENST00000691888.1:c.565G>A (RAF1)
ENST00000691899.1:c.1691G>A (RAF1)	ENSP00000508763.1:p.Gly564Glu
ENST00000692069.1:n.4615G>A (RAF1)
ENST00000692093.1:c.1592G>A (RAF1)	ENSP00000509669.1:p.Gly531Glu
ENST00000692311.1:n.2515G>A (RAF1)
ENST00000692558.1:n.4274G>A (RAF1)
ENST00000692773.1:c.*1428G>A (RAF1)	ENSP00000509055.1:n.*1428G>A
ENST00000692830.1:c.*1436G>A (RAF1)	ENSP00000509461.1:n.*1436G>A
ENST00000693312.1:c.1466G>A (RAF1)	ENSP00000508686.1:p.Gly489Glu
ENST00000693664.1:c.*142G>A (RAF1)	ENSP00000509614.1:n.*142G>A
ENST00000693705.1:c.*1070G>A (RAF1)	ENSP00000510697.1:n.*1070G>A
ENST00000251849.9:c.1691G>A (RAF1) MANE Select	ENSP00000251849.4:p.Gly564Glu
ENST00000442415.7:c.1751G>A (RAF1)	ENSP00000401888.2:p.Gly584Glu
ENST00000676541.1:c.*2706C>T (MKRN2)	ENSP00000503730.1:n.*2706C>T
ENST00000677142.1:c.*2706C>T (MKRN2)	ENSP00000504455.1:n.*2706C>T
ENST00000677816.1:c.*1261C>T (MKRN2)	ENSP00000502893.1:n.*1261C>T
ENST00000677941.1:n.2769C>T (MKRN2)
ENST00000251849.8:c.1691G>A (RAF1)	ENSP00000251849.4:p.Gly564Glu
ENST00000423275.5:c.*1368G>A (RAF1)	ENSP00000401088.1:n.*1368G>A
ENST00000432427.2:c.1328G>A (RAF1)	ENSP00000398591.2:p.Gly443Glu
ENST00000442415.6:c.1751G>A (RAF1)	ENSP00000401888.2:p.Gly584Glu
ENST00000471449.1:n.380G>A (RAF1)
NM_002880.3:c.1691G>A , LRG_413t1:c.1691G>A (RAF1)	NP_002871.1:p.Gly564Glu
XM_005265355.1:c.1691G>A (RAF1)	XP_005265412.1:p.Gly564Glu
XM_005265357.1:c.1592G>A (RAF1)	XP_005265414.1:p.Gly531Glu
XM_005265358.3:c.1448G>A (RAF1)	XP_005265415.1:p.Gly483Glu
XM_005265359.3:c.1349G>A (RAF1)	XP_005265416.1:p.Gly450Glu
XM_011533974.1:c.1691G>A (RAF1)	XP_011532276.1:p.Gly564Glu
XM_011533975.1:c.1448G>A (RAF1)	XP_011532277.1:p.Gly483Glu
NM_001354689.1:c.1751G>A (RAF1)	NP_001341618.1:p.Gly584Glu
NM_001354690.1:c.1691G>A (RAF1)	NP_001341619.1:p.Gly564Glu
NM_001354691.1:c.1448G>A (RAF1)	NP_001341620.1:p.Gly483Glu
NM_001354692.1:c.1448G>A (RAF1)	NP_001341621.1:p.Gly483Glu
NM_001354693.1:c.1592G>A (RAF1)	NP_001341622.1:p.Gly531Glu
NM_001354694.1:c.1508G>A (RAF1)	NP_001341623.1:p.Gly503Glu
NM_001354695.1:c.1349G>A (RAF1)	NP_001341624.1:p.Gly450Glu
NR_148940.1:n.2219G>A (RAF1)
NR_148941.1:n.2165G>A (RAF1)
NR_148942.1:n.2104G>A (RAF1)
XM_011533974.3:c.1691G>A (RAF1)	XP_011532276.1:p.Gly564Glu
XM_017006966.1:c.1592G>A (RAF1)	XP_016862455.1:p.Gly531Glu
NM_001354689.3:c.1751G>A (RAF1)	NP_001341618.1:p.Gly584Glu
NM_001354690.2:c.1691G>A (RAF1)	NP_001341619.1:p.Gly564Glu
NM_001354691.2:c.1448G>A (RAF1)	NP_001341620.1:p.Gly483Glu
NM_001354692.2:c.1448G>A (RAF1)	NP_001341621.1:p.Gly483Glu
NM_001354693.2:c.1592G>A (RAF1)	NP_001341622.1:p.Gly531Glu
NM_001354694.2:c.1508G>A (RAF1)	NP_001341623.1:p.Gly503Glu
NM_001354695.2:c.1349G>A (RAF1)	NP_001341624.1:p.Gly450Glu
NR_148940.2:n.2135G>A (RAF1)
NR_148941.2:n.2081G>A (RAF1)
NR_148942.2:n.2020G>A (RAF1)
NM_001354690.3:c.1691G>A (RAF1)	NP_001341619.1:p.Gly564Glu
NM_001354691.3:c.1448G>A (RAF1)	NP_001341620.1:p.Gly483Glu
NM_001354692.3:c.1448G>A (RAF1)	NP_001341621.1:p.Gly483Glu
NM_001354693.3:c.1592G>A (RAF1)	NP_001341622.1:p.Gly531Glu
NM_001354694.3:c.1508G>A (RAF1)	NP_001341623.1:p.Gly503Glu
NM_001354695.3:c.1349G>A (RAF1)	NP_001341624.1:p.Gly450Glu
NM_002880.4:c.1691G>A (RAF1) MANE Select	NP_002871.1:p.Gly564Glu
NR_148940.3:n.2135G>A (RAF1)
NR_148941.3:n.2081G>A (RAF1)
NR_148942.3:n.2020G>A (RAF1)