Canonical Allele Identifier: CA134702

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 44621
• ClinVar RCV Id: RCV000037678
• dbSNP Id: rs397516816
• gnomAD v4: 3-12585689-G-A
• MyVariant Identifiers: chr3:g.12627188G>A (hg19) ; chr3:g.12585689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585689G>A , CM000665.2:g.12585689G>A	GRCh38
NC_000003.11:g.12627188G>A , CM000665.1:g.12627188G>A	GRCh37
NC_000003.10:g.12602188G>A	NCBI36
NG_007467.1:g.83491C>T , LRG_413:g.83491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1193C>T (RAF1)	ENSP00000401088.1:n.*1193C>T
ENST00000432427.3:c.845C>T (RAF1)
ENST00000460610.2:n.5273C>T (RAF1)
ENST00000471449.2:n.338C>T (RAF1)
ENST00000475353.2:n.3241C>T (RAF1)
ENST00000684903.1:c.*1205C>T (RAF1)	ENSP00000508612.1:n.*1205C>T
ENST00000685348.1:c.*1095-283C>T (RAF1)	ENSP00000510285.1:n.*1095-283C>T
ENST00000685437.1:c.1429C>T (RAF1)	ENSP00000508794.1:p.Leu477Phe
ENST00000685653.1:c.1528C>T (RAF1)	ENSP00000509968.1:p.Leu510Phe
ENST00000685697.1:n.2263C>T (RAF1)
ENST00000685738.1:c.*492C>T (RAF1)	ENSP00000510156.1:n.*492C>T
ENST00000686409.1:n.4370C>T (RAF1)
ENST00000686455.1:n.3682C>T (RAF1)
ENST00000686762.1:c.*87C>T (RAF1)	ENSP00000509767.1:n.*87C>T
ENST00000687257.1:n.3555C>T (RAF1)
ENST00000687326.1:c.*2253C>T (RAF1)	ENSP00000509665.1:n.*2253C>T
ENST00000687505.1:n.1646C>T (RAF1)
ENST00000687923.1:c.1417C>T (RAF1)	ENSP00000510255.1:p.Leu473Phe
ENST00000688269.1:n.2124C>T (RAF1)
ENST00000688444.1:n.3645C>T (RAF1)
ENST00000688543.1:c.1429C>T (RAF1)	ENSP00000509612.1:p.Leu477Phe
ENST00000688625.1:c.*2897C>T (RAF1)	ENSP00000509522.1:n.*2897C>T
ENST00000688803.1:n.2965-436C>T (RAF1)
ENST00000688914.1:n.514C>T (RAF1)
ENST00000689097.1:c.*1205C>T (RAF1)	ENSP00000509756.1:n.*1205C>T
ENST00000689389.1:c.1351C>T (RAF1)	ENSP00000510213.1:p.Leu451Phe
ENST00000689418.1:c.*2996C>T (RAF1)	ENSP00000509467.1:n.*2996C>T
ENST00000689540.1:n.3469C>T (RAF1)
ENST00000689876.1:c.1418-283C>T (RAF1)	ENSP00000508535.1:n.1418-283C>T
ENST00000689914.1:c.*462C>T (RAF1)	ENSP00000509847.1:n.*462C>T
ENST00000690397.1:c.1417C>T (RAF1)	ENSP00000508730.1:p.Leu473Phe
ENST00000690460.1:c.1516C>T (RAF1)	ENSP00000509106.1:p.Leu506Phe
ENST00000690585.1:c.263-436C>T (RAF1)
ENST00000690625.1:n.2564C>T (RAF1)
ENST00000691396.1:c.*1400C>T (RAF1)	ENSP00000510712.1:n.*1400C>T
ENST00000691643.1:n.2154C>T (RAF1)
ENST00000691724.1:c.*485C>T (RAF1)	ENSP00000509255.1:n.*485C>T
ENST00000691779.1:c.*1106C>T (RAF1)	ENSP00000508592.1:n.*1106C>T
ENST00000691888.1:c.402C>T (RAF1)
ENST00000691899.1:c.1528C>T (RAF1)	ENSP00000508763.1:p.Leu510Phe
ENST00000692069.1:n.3885C>T (RAF1)
ENST00000692093.1:c.1429C>T (RAF1)	ENSP00000509669.1:p.Leu477Phe
ENST00000692311.1:n.2352C>T (RAF1)
ENST00000692558.1:n.3684C>T (RAF1)
ENST00000692773.1:c.*1265C>T (RAF1)	ENSP00000509055.1:n.*1265C>T
ENST00000692830.1:c.*1273C>T (RAF1)	ENSP00000509461.1:n.*1273C>T
ENST00000693312.1:c.1303C>T (RAF1)	ENSP00000508686.1:p.Leu435Phe
ENST00000693664.1:c.1488-436C>T (RAF1)	ENSP00000509614.1:n.1488-436C>T
ENST00000693705.1:c.*1048-708C>T (RAF1)	ENSP00000510697.1:n.*1048-708C>T
ENST00000251849.9:c.1528C>T (RAF1) MANE Select	ENSP00000251849.4:p.Leu510Phe
ENST00000442415.7:c.1588C>T (RAF1)	ENSP00000401888.2:p.Leu530Phe
ENST00000676541.1:c.*3436G>A (MKRN2)	ENSP00000503730.1:n.*3436G>A
ENST00000677142.1:c.*3436G>A (MKRN2)	ENSP00000504455.1:n.*3436G>A
ENST00000677816.1:c.*1991G>A (MKRN2)	ENSP00000502893.1:n.*1991G>A
ENST00000677941.1:n.3499G>A (MKRN2)
ENST00000251849.8:c.1528C>T (RAF1)	ENSP00000251849.4:p.Leu510Phe
ENST00000423275.5:c.*1205C>T (RAF1)	ENSP00000401088.1:n.*1205C>T
ENST00000432427.2:c.1165C>T (RAF1)	ENSP00000398591.2:p.Leu389Phe
ENST00000442415.6:c.1588C>T (RAF1)	ENSP00000401888.2:p.Leu530Phe
ENST00000471449.1:n.217C>T (RAF1)
NM_002880.3:c.1528C>T , LRG_413t1:c.1528C>T (RAF1)	NP_002871.1:p.Leu510Phe
XM_005265355.1:c.1528C>T (RAF1)	XP_005265412.1:p.Leu510Phe
XM_005265357.1:c.1429C>T (RAF1)	XP_005265414.1:p.Leu477Phe
XM_005265358.3:c.1285C>T (RAF1)	XP_005265415.1:p.Leu429Phe
XM_005265359.3:c.1186C>T (RAF1)	XP_005265416.1:p.Leu396Phe
XM_005265360.1:c.1418-283C>T (RAF1)	XP_005265417.1:n.1418-283C>T
XM_011533974.1:c.1528C>T (RAF1)	XP_011532276.1:p.Leu510Phe
XM_011533975.1:c.1285C>T (RAF1)	XP_011532277.1:p.Leu429Phe
NM_001354689.1:c.1588C>T (RAF1)	NP_001341618.1:p.Leu530Phe
NM_001354690.1:c.1528C>T (RAF1)	NP_001341619.1:p.Leu510Phe
NM_001354691.1:c.1285C>T (RAF1)	NP_001341620.1:p.Leu429Phe
NM_001354692.1:c.1285C>T (RAF1)	NP_001341621.1:p.Leu429Phe
NM_001354693.1:c.1429C>T (RAF1)	NP_001341622.1:p.Leu477Phe
NM_001354694.1:c.1345C>T (RAF1)	NP_001341623.1:p.Leu449Phe
NM_001354695.1:c.1186C>T (RAF1)	NP_001341624.1:p.Leu396Phe
NR_148940.1:n.2056C>T (RAF1)
NR_148941.1:n.2002C>T (RAF1)
NR_148942.1:n.1941C>T (RAF1)
XM_011533974.3:c.1528C>T (RAF1)	XP_011532276.1:p.Leu510Phe
XM_017006966.1:c.1429C>T (RAF1)	XP_016862455.1:p.Leu477Phe
NM_001354689.3:c.1588C>T (RAF1)	NP_001341618.1:p.Leu530Phe
NM_001354690.2:c.1528C>T (RAF1)	NP_001341619.1:p.Leu510Phe
NM_001354691.2:c.1285C>T (RAF1)	NP_001341620.1:p.Leu429Phe
NM_001354692.2:c.1285C>T (RAF1)	NP_001341621.1:p.Leu429Phe
NM_001354693.2:c.1429C>T (RAF1)	NP_001341622.1:p.Leu477Phe
NM_001354694.2:c.1345C>T (RAF1)	NP_001341623.1:p.Leu449Phe
NM_001354695.2:c.1186C>T (RAF1)	NP_001341624.1:p.Leu396Phe
NR_148940.2:n.1972C>T (RAF1)
NR_148941.2:n.1918C>T (RAF1)
NR_148942.2:n.1857C>T (RAF1)
NM_001354690.3:c.1528C>T (RAF1)	NP_001341619.1:p.Leu510Phe
NM_001354691.3:c.1285C>T (RAF1)	NP_001341620.1:p.Leu429Phe
NM_001354692.3:c.1285C>T (RAF1)	NP_001341621.1:p.Leu429Phe
NM_001354693.3:c.1429C>T (RAF1)	NP_001341622.1:p.Leu477Phe
NM_001354694.3:c.1345C>T (RAF1)	NP_001341623.1:p.Leu449Phe
NM_001354695.3:c.1186C>T (RAF1)	NP_001341624.1:p.Leu396Phe
NM_002880.4:c.1528C>T (RAF1) MANE Select	NP_002871.1:p.Leu510Phe
NR_148940.3:n.1972C>T (RAF1)
NR_148941.3:n.1918C>T (RAF1)
NR_148942.3:n.1857C>T (RAF1)