Canonical Allele Identifier: CA2259384

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 928752
• ClinVar RCV Id: RCV001193134 ; RCV001455225 ; RCV002411725
• dbSNP Id: rs200235582
• ExAC: 3:12626118 C / T
• gnomAD v2: 3-12626118-C-T
• gnomAD v4: 3-12584619-C-T
• COSMIC: COSM1037778 ; COSM4869472
• MyVariant Identifiers: chr3:g.12626118C>T (hg19) ; chr3:g.12584619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584619C>T , CM000665.2:g.12584619C>T	GRCh38
NC_000003.11:g.12626118C>T , CM000665.1:g.12626118C>T	GRCh37
NC_000003.10:g.12601118C>T	NCBI36
NG_007467.1:g.84561G>A , LRG_413:g.84561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1507G>A (RAF1)	ENSP00000401088.1:n.*1507G>A
ENST00000432427.3:c.1159G>A (RAF1)
ENST00000460610.2:n.6154G>A (RAF1)
ENST00000471449.2:n.652G>A (RAF1)
ENST00000475353.2:n.4122G>A (RAF1)
ENST00000684903.1:c.*1519G>A (RAF1)	ENSP00000508612.1:n.*1519G>A
ENST00000685348.1:c.*1553G>A (RAF1)	ENSP00000510285.1:n.*1553G>A
ENST00000685437.1:c.1743G>A (RAF1)	ENSP00000508794.1:p.Pro581=
ENST00000685653.1:c.1842G>A (RAF1)	ENSP00000509968.1:p.Pro614=
ENST00000685697.1:n.2577G>A (RAF1)
ENST00000685738.1:c.*806G>A (RAF1)	ENSP00000510156.1:n.*806G>A
ENST00000686409.1:n.5251G>A (RAF1)
ENST00000686455.1:n.4563G>A (RAF1)
ENST00000686762.1:c.*401G>A (RAF1)	ENSP00000509767.1:n.*401G>A
ENST00000687257.1:n.4296G>A (RAF1)
ENST00000687326.1:c.*3134G>A (RAF1)	ENSP00000509665.1:n.*3134G>A
ENST00000687505.1:n.1960G>A (RAF1)
ENST00000687923.1:c.1731G>A (RAF1)	ENSP00000510255.1:p.Pro577=
ENST00000688269.1:n.2438G>A (RAF1)
ENST00000688444.1:n.3959G>A (RAF1)
ENST00000688543.1:c.1743G>A (RAF1)	ENSP00000509612.1:p.Pro581=
ENST00000688625.1:c.*3211G>A (RAF1)	ENSP00000509522.1:n.*3211G>A
ENST00000688803.1:n.3270G>A (RAF1)
ENST00000689097.1:c.*1519G>A (RAF1)	ENSP00000509756.1:n.*1519G>A
ENST00000689389.1:c.1665G>A (RAF1)	ENSP00000510213.1:p.Pro555=
ENST00000689418.1:c.*3737G>A (RAF1)	ENSP00000509467.1:n.*3737G>A
ENST00000689540.1:n.4210G>A (RAF1)
ENST00000689876.1:c.*391G>A (RAF1)	ENSP00000508535.1:n.*391G>A
ENST00000689914.1:c.*776G>A (RAF1)	ENSP00000509847.1:n.*776G>A
ENST00000690397.1:c.1731G>A (RAF1)	ENSP00000508730.1:p.Pro577=
ENST00000690460.1:c.1830G>A (RAF1)	ENSP00000509106.1:p.Pro610=
ENST00000690585.1:c.568G>A (RAF1)
ENST00000690625.1:n.2878G>A (RAF1)
ENST00000691396.1:c.*1714G>A (RAF1)	ENSP00000510712.1:n.*1714G>A
ENST00000691643.1:n.2895G>A (RAF1)
ENST00000691724.1:c.*799G>A (RAF1)	ENSP00000509255.1:n.*799G>A
ENST00000691779.1:c.*1420G>A (RAF1)	ENSP00000508592.1:n.*1420G>A
ENST00000691888.1:c.716G>A (RAF1)
ENST00000691899.1:c.1842G>A (RAF1)	ENSP00000508763.1:p.Pro614=
ENST00000692069.1:n.4766G>A (RAF1)
ENST00000692093.1:c.1743G>A (RAF1)	ENSP00000509669.1:p.Pro581=
ENST00000692311.1:n.2666G>A (RAF1)
ENST00000692558.1:n.4425G>A (RAF1)
ENST00000692773.1:c.*1579G>A (RAF1)	ENSP00000509055.1:n.*1579G>A
ENST00000692830.1:c.*1587G>A (RAF1)	ENSP00000509461.1:n.*1587G>A
ENST00000693312.1:c.1617G>A (RAF1)	ENSP00000508686.1:p.Pro539=
ENST00000693664.1:c.*293G>A (RAF1)	ENSP00000509614.1:n.*293G>A
ENST00000693705.1:c.*1221G>A (RAF1)	ENSP00000510697.1:n.*1221G>A
ENST00000251849.9:c.1842G>A (RAF1) MANE Select	ENSP00000251849.4:p.Pro614=
ENST00000442415.7:c.1902G>A (RAF1)	ENSP00000401888.2:p.Pro634=
ENST00000676541.1:c.*2366C>T (MKRN2)	ENSP00000503730.1:n.*2366C>T
ENST00000677142.1:c.*2366C>T (MKRN2)	ENSP00000504455.1:n.*2366C>T
ENST00000677816.1:c.*921C>T (MKRN2)	ENSP00000502893.1:n.*921C>T
ENST00000677941.1:n.2429C>T (MKRN2)
ENST00000251849.8:c.1842G>A (RAF1)	ENSP00000251849.4:p.Pro614=
ENST00000423275.5:c.*1519G>A (RAF1)	ENSP00000401088.1:n.*1519G>A
ENST00000432427.2:c.1479G>A (RAF1)	ENSP00000398591.2:p.Pro493=
ENST00000442415.6:c.1902G>A (RAF1)	ENSP00000401888.2:p.Pro634=
ENST00000471449.1:n.531G>A (RAF1)
NM_002880.3:c.1842G>A , LRG_413t1:c.1842G>A (RAF1)	NP_002871.1:p.Pro614=
XM_005265355.1:c.1842G>A (RAF1)	XP_005265412.1:p.Pro614=
XM_005265357.1:c.1743G>A (RAF1)	XP_005265414.1:p.Pro581=
XM_005265358.3:c.1599G>A (RAF1)	XP_005265415.1:p.Pro533=
XM_005265359.3:c.1500G>A (RAF1)	XP_005265416.1:p.Pro500=
XM_011533974.1:c.1842G>A (RAF1)	XP_011532276.1:p.Pro614=
XM_011533975.1:c.1599G>A (RAF1)	XP_011532277.1:p.Pro533=
NM_001354689.1:c.1902G>A (RAF1)	NP_001341618.1:p.Pro634=
NM_001354690.1:c.1842G>A (RAF1)	NP_001341619.1:p.Pro614=
NM_001354691.1:c.1599G>A (RAF1)	NP_001341620.1:p.Pro533=
NM_001354692.1:c.1599G>A (RAF1)	NP_001341621.1:p.Pro533=
NM_001354693.1:c.1743G>A (RAF1)	NP_001341622.1:p.Pro581=
NM_001354694.1:c.1659G>A (RAF1)	NP_001341623.1:p.Pro553=
NM_001354695.1:c.1500G>A (RAF1)	NP_001341624.1:p.Pro500=
NR_148940.1:n.2370G>A (RAF1)
NR_148941.1:n.2316G>A (RAF1)
NR_148942.1:n.2255G>A (RAF1)
XM_011533974.3:c.1842G>A (RAF1)	XP_011532276.1:p.Pro614=
XM_017006966.1:c.1743G>A (RAF1)	XP_016862455.1:p.Pro581=
NM_001354689.3:c.1902G>A (RAF1)	NP_001341618.1:p.Pro634=
NM_001354690.2:c.1842G>A (RAF1)	NP_001341619.1:p.Pro614=
NM_001354691.2:c.1599G>A (RAF1)	NP_001341620.1:p.Pro533=
NM_001354692.2:c.1599G>A (RAF1)	NP_001341621.1:p.Pro533=
NM_001354693.2:c.1743G>A (RAF1)	NP_001341622.1:p.Pro581=
NM_001354694.2:c.1659G>A (RAF1)	NP_001341623.1:p.Pro553=
NM_001354695.2:c.1500G>A (RAF1)	NP_001341624.1:p.Pro500=
NR_148940.2:n.2286G>A (RAF1)
NR_148941.2:n.2232G>A (RAF1)
NR_148942.2:n.2171G>A (RAF1)
NM_001354690.3:c.1842G>A (RAF1)	NP_001341619.1:p.Pro614=
NM_001354691.3:c.1599G>A (RAF1)	NP_001341620.1:p.Pro533=
NM_001354692.3:c.1599G>A (RAF1)	NP_001341621.1:p.Pro533=
NM_001354693.3:c.1743G>A (RAF1)	NP_001341622.1:p.Pro581=
NM_001354694.3:c.1659G>A (RAF1)	NP_001341623.1:p.Pro553=
NM_001354695.3:c.1500G>A (RAF1)	NP_001341624.1:p.Pro500=
NM_002880.4:c.1842G>A (RAF1) MANE Select	NP_002871.1:p.Pro614=
NR_148940.3:n.2286G>A (RAF1)
NR_148941.3:n.2232G>A (RAF1)
NR_148942.3:n.2171G>A (RAF1)