Canonical Allele Identifier: CA2259430

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 561970
• ClinVar RCV Id: RCV000681431 ; RCV003768046
• dbSNP Id: rs746937683
• ExAC: 3:12626464 C / A
• gnomAD v2: 3-12626464-C-A
• gnomAD v3: 3-12584965-C-A
• gnomAD v4: 3-12584965-C-A
• MyVariant Identifiers: chr3:g.12626464C>A (hg19) ; chr3:g.12584965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584965C>A , CM000665.2:g.12584965C>A	GRCh38
NC_000003.11:g.12626464C>A , CM000665.1:g.12626464C>A	GRCh37
NC_000003.10:g.12601464C>A	NCBI36
NG_007467.1:g.84215G>T , LRG_413:g.84215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1350G>T (RAF1)	ENSP00000401088.1:n.*1350G>T
ENST00000432427.3:c.1002G>T (RAF1)
ENST00000460610.2:n.5997G>T (RAF1)
ENST00000471449.2:n.495G>T (RAF1)
ENST00000475353.2:n.3965G>T (RAF1)
ENST00000684903.1:c.*1362G>T (RAF1)	ENSP00000508612.1:n.*1362G>T
ENST00000685348.1:c.*1396G>T (RAF1)	ENSP00000510285.1:n.*1396G>T
ENST00000685437.1:c.1586G>T (RAF1)	ENSP00000508794.1:p.Gly529Val
ENST00000685653.1:c.1685G>T (RAF1)	ENSP00000509968.1:p.Gly562Val
ENST00000685697.1:n.2420G>T (RAF1)
ENST00000685738.1:c.*649G>T (RAF1)	ENSP00000510156.1:n.*649G>T
ENST00000686409.1:n.5094G>T (RAF1)
ENST00000686455.1:n.4406G>T (RAF1)
ENST00000686762.1:c.*244G>T (RAF1)	ENSP00000509767.1:n.*244G>T
ENST00000687257.1:n.4139G>T (RAF1)
ENST00000687326.1:c.*2977G>T (RAF1)	ENSP00000509665.1:n.*2977G>T
ENST00000687505.1:n.1803G>T (RAF1)
ENST00000687923.1:c.1574G>T (RAF1)	ENSP00000510255.1:p.Gly525Val
ENST00000688269.1:n.2281G>T (RAF1)
ENST00000688444.1:n.3802G>T (RAF1)
ENST00000688543.1:c.1586G>T (RAF1)	ENSP00000509612.1:p.Gly529Val
ENST00000688625.1:c.*3054G>T (RAF1)	ENSP00000509522.1:n.*3054G>T
ENST00000688803.1:n.3113G>T (RAF1)
ENST00000688914.1:n.1098G>T (RAF1)
ENST00000689097.1:c.*1362G>T (RAF1)	ENSP00000509756.1:n.*1362G>T
ENST00000689389.1:c.1508G>T (RAF1)	ENSP00000510213.1:p.Gly503Val
ENST00000689418.1:c.*3580G>T (RAF1)	ENSP00000509467.1:n.*3580G>T
ENST00000689540.1:n.4053G>T (RAF1)
ENST00000689876.1:c.*234G>T (RAF1)	ENSP00000508535.1:n.*234G>T
ENST00000689914.1:c.*619G>T (RAF1)	ENSP00000509847.1:n.*619G>T
ENST00000690397.1:c.1574G>T (RAF1)	ENSP00000508730.1:p.Gly525Val
ENST00000690460.1:c.1673G>T (RAF1)	ENSP00000509106.1:p.Gly558Val
ENST00000690585.1:c.411G>T (RAF1)
ENST00000690625.1:n.2721G>T (RAF1)
ENST00000691396.1:c.*1557G>T (RAF1)	ENSP00000510712.1:n.*1557G>T
ENST00000691643.1:n.2738G>T (RAF1)
ENST00000691724.1:c.*642G>T (RAF1)	ENSP00000509255.1:n.*642G>T
ENST00000691779.1:c.*1263G>T (RAF1)	ENSP00000508592.1:n.*1263G>T
ENST00000691888.1:c.559G>T (RAF1)
ENST00000691899.1:c.1685G>T (RAF1)	ENSP00000508763.1:p.Gly562Val
ENST00000692069.1:n.4609G>T (RAF1)
ENST00000692093.1:c.1586G>T (RAF1)	ENSP00000509669.1:p.Gly529Val
ENST00000692311.1:n.2509G>T (RAF1)
ENST00000692558.1:n.4268G>T (RAF1)
ENST00000692773.1:c.*1422G>T (RAF1)	ENSP00000509055.1:n.*1422G>T
ENST00000692830.1:c.*1430G>T (RAF1)	ENSP00000509461.1:n.*1430G>T
ENST00000693312.1:c.1460G>T (RAF1)	ENSP00000508686.1:p.Gly487Val
ENST00000693664.1:c.*136G>T (RAF1)	ENSP00000509614.1:n.*136G>T
ENST00000693705.1:c.*1064G>T (RAF1)	ENSP00000510697.1:n.*1064G>T
ENST00000251849.9:c.1685G>T (RAF1) MANE Select	ENSP00000251849.4:p.Gly562Val
ENST00000442415.7:c.1745G>T (RAF1)	ENSP00000401888.2:p.Gly582Val
ENST00000676541.1:c.*2712C>A (MKRN2)	ENSP00000503730.1:n.*2712C>A
ENST00000677142.1:c.*2712C>A (MKRN2)	ENSP00000504455.1:n.*2712C>A
ENST00000677816.1:c.*1267C>A (MKRN2)	ENSP00000502893.1:n.*1267C>A
ENST00000677941.1:n.2775C>A (MKRN2)
ENST00000251849.8:c.1685G>T (RAF1)	ENSP00000251849.4:p.Gly562Val
ENST00000423275.5:c.*1362G>T (RAF1)	ENSP00000401088.1:n.*1362G>T
ENST00000432427.2:c.1322G>T (RAF1)	ENSP00000398591.2:p.Gly441Val
ENST00000442415.6:c.1745G>T (RAF1)	ENSP00000401888.2:p.Gly582Val
ENST00000471449.1:n.374G>T (RAF1)
NM_002880.3:c.1685G>T , LRG_413t1:c.1685G>T (RAF1)	NP_002871.1:p.Gly562Val
XM_005265355.1:c.1685G>T (RAF1)	XP_005265412.1:p.Gly562Val
XM_005265357.1:c.1586G>T (RAF1)	XP_005265414.1:p.Gly529Val
XM_005265358.3:c.1442G>T (RAF1)	XP_005265415.1:p.Gly481Val
XM_005265359.3:c.1343G>T (RAF1)	XP_005265416.1:p.Gly448Val
XM_011533974.1:c.1685G>T (RAF1)	XP_011532276.1:p.Gly562Val
XM_011533975.1:c.1442G>T (RAF1)	XP_011532277.1:p.Gly481Val
NM_001354689.1:c.1745G>T (RAF1)	NP_001341618.1:p.Gly582Val
NM_001354690.1:c.1685G>T (RAF1)	NP_001341619.1:p.Gly562Val
NM_001354691.1:c.1442G>T (RAF1)	NP_001341620.1:p.Gly481Val
NM_001354692.1:c.1442G>T (RAF1)	NP_001341621.1:p.Gly481Val
NM_001354693.1:c.1586G>T (RAF1)	NP_001341622.1:p.Gly529Val
NM_001354694.1:c.1502G>T (RAF1)	NP_001341623.1:p.Gly501Val
NM_001354695.1:c.1343G>T (RAF1)	NP_001341624.1:p.Gly448Val
NR_148940.1:n.2213G>T (RAF1)
NR_148941.1:n.2159G>T (RAF1)
NR_148942.1:n.2098G>T (RAF1)
XM_011533974.3:c.1685G>T (RAF1)	XP_011532276.1:p.Gly562Val
XM_017006966.1:c.1586G>T (RAF1)	XP_016862455.1:p.Gly529Val
NM_001354689.3:c.1745G>T (RAF1)	NP_001341618.1:p.Gly582Val
NM_001354690.2:c.1685G>T (RAF1)	NP_001341619.1:p.Gly562Val
NM_001354691.2:c.1442G>T (RAF1)	NP_001341620.1:p.Gly481Val
NM_001354692.2:c.1442G>T (RAF1)	NP_001341621.1:p.Gly481Val
NM_001354693.2:c.1586G>T (RAF1)	NP_001341622.1:p.Gly529Val
NM_001354694.2:c.1502G>T (RAF1)	NP_001341623.1:p.Gly501Val
NM_001354695.2:c.1343G>T (RAF1)	NP_001341624.1:p.Gly448Val
NR_148940.2:n.2129G>T (RAF1)
NR_148941.2:n.2075G>T (RAF1)
NR_148942.2:n.2014G>T (RAF1)
NM_001354690.3:c.1685G>T (RAF1)	NP_001341619.1:p.Gly562Val
NM_001354691.3:c.1442G>T (RAF1)	NP_001341620.1:p.Gly481Val
NM_001354692.3:c.1442G>T (RAF1)	NP_001341621.1:p.Gly481Val
NM_001354693.3:c.1586G>T (RAF1)	NP_001341622.1:p.Gly529Val
NM_001354694.3:c.1502G>T (RAF1)	NP_001341623.1:p.Gly501Val
NM_001354695.3:c.1343G>T (RAF1)	NP_001341624.1:p.Gly448Val
NM_002880.4:c.1685G>T (RAF1) MANE Select	NP_002871.1:p.Gly562Val
NR_148940.3:n.2129G>T (RAF1)
NR_148941.3:n.2075G>T (RAF1)
NR_148942.3:n.2014G>T (RAF1)