Canonical Allele Identifier: CA351498775

Gene: RAF1 MKRN2

Linked Data

• MyVariant Identifiers: chr3:g.12627184C>A (hg19) ; chr3:g.12585685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585685C>A , CM000665.2:g.12585685C>A	GRCh38
NC_000003.11:g.12627184C>A , CM000665.1:g.12627184C>A	GRCh37
NC_000003.10:g.12602184C>A	NCBI36
NG_007467.1:g.83495G>T , LRG_413:g.83495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1197G>T (RAF1)	ENSP00000401088.1:n.*1197G>T
ENST00000432427.3:c.849G>T (RAF1)
ENST00000460610.2:n.5277G>T (RAF1)
ENST00000471449.2:n.342G>T (RAF1)
ENST00000475353.2:n.3245G>T (RAF1)
ENST00000684903.1:c.*1209G>T (RAF1)	ENSP00000508612.1:n.*1209G>T
ENST00000685348.1:c.*1095-279G>T (RAF1)	ENSP00000510285.1:n.*1095-279G>T
ENST00000685437.1:c.1433G>T (RAF1)	ENSP00000508794.1:p.Trp478Leu
ENST00000685653.1:c.1532G>T (RAF1)	ENSP00000509968.1:p.Trp511Leu
ENST00000685697.1:n.2267G>T (RAF1)
ENST00000685738.1:c.*496G>T (RAF1)	ENSP00000510156.1:n.*496G>T
ENST00000686409.1:n.4374G>T (RAF1)
ENST00000686455.1:n.3686G>T (RAF1)
ENST00000686762.1:c.*91G>T (RAF1)	ENSP00000509767.1:n.*91G>T
ENST00000687257.1:n.3559G>T (RAF1)
ENST00000687326.1:c.*2257G>T (RAF1)	ENSP00000509665.1:n.*2257G>T
ENST00000687505.1:n.1650G>T (RAF1)
ENST00000687923.1:c.1421G>T (RAF1)	ENSP00000510255.1:p.Trp474Leu
ENST00000688269.1:n.2128G>T (RAF1)
ENST00000688444.1:n.3649G>T (RAF1)
ENST00000688543.1:c.1433G>T (RAF1)	ENSP00000509612.1:p.Trp478Leu
ENST00000688625.1:c.*2901G>T (RAF1)	ENSP00000509522.1:n.*2901G>T
ENST00000688803.1:n.2965-432G>T (RAF1)
ENST00000688914.1:n.518G>T (RAF1)
ENST00000689097.1:c.*1209G>T (RAF1)	ENSP00000509756.1:n.*1209G>T
ENST00000689389.1:c.1355G>T (RAF1)	ENSP00000510213.1:p.Trp452Leu
ENST00000689418.1:c.*3000G>T (RAF1)	ENSP00000509467.1:n.*3000G>T
ENST00000689540.1:n.3473G>T (RAF1)
ENST00000689876.1:c.1418-279G>T (RAF1)	ENSP00000508535.1:n.1418-279G>T
ENST00000689914.1:c.*466G>T (RAF1)	ENSP00000509847.1:n.*466G>T
ENST00000690397.1:c.1421G>T (RAF1)	ENSP00000508730.1:p.Trp474Leu
ENST00000690460.1:c.1520G>T (RAF1)	ENSP00000509106.1:p.Trp507Leu
ENST00000690585.1:c.263-432G>T (RAF1)
ENST00000690625.1:n.2568G>T (RAF1)
ENST00000691396.1:c.*1404G>T (RAF1)	ENSP00000510712.1:n.*1404G>T
ENST00000691643.1:n.2158G>T (RAF1)
ENST00000691724.1:c.*489G>T (RAF1)	ENSP00000509255.1:n.*489G>T
ENST00000691779.1:c.*1110G>T (RAF1)	ENSP00000508592.1:n.*1110G>T
ENST00000691888.1:c.406G>T (RAF1)
ENST00000691899.1:c.1532G>T (RAF1)	ENSP00000508763.1:p.Trp511Leu
ENST00000692069.1:n.3889G>T (RAF1)
ENST00000692093.1:c.1433G>T (RAF1)	ENSP00000509669.1:p.Trp478Leu
ENST00000692311.1:n.2356G>T (RAF1)
ENST00000692558.1:n.3688G>T (RAF1)
ENST00000692773.1:c.*1269G>T (RAF1)	ENSP00000509055.1:n.*1269G>T
ENST00000692830.1:c.*1277G>T (RAF1)	ENSP00000509461.1:n.*1277G>T
ENST00000693312.1:c.1307G>T (RAF1)	ENSP00000508686.1:p.Trp436Leu
ENST00000693664.1:c.1488-432G>T (RAF1)	ENSP00000509614.1:n.1488-432G>T
ENST00000693705.1:c.*1048-704G>T (RAF1)	ENSP00000510697.1:n.*1048-704G>T
ENST00000251849.9:c.1532G>T (RAF1) MANE Select	ENSP00000251849.4:p.Trp511Leu
ENST00000442415.7:c.1592G>T (RAF1)	ENSP00000401888.2:p.Trp531Leu
ENST00000676541.1:c.*3432C>A (MKRN2)	ENSP00000503730.1:n.*3432C>A
ENST00000677142.1:c.*3432C>A (MKRN2)	ENSP00000504455.1:n.*3432C>A
ENST00000677816.1:c.*1987C>A (MKRN2)	ENSP00000502893.1:n.*1987C>A
ENST00000677941.1:n.3495C>A (MKRN2)
ENST00000251849.8:c.1532G>T (RAF1)	ENSP00000251849.4:p.Trp511Leu
ENST00000423275.5:c.*1209G>T (RAF1)	ENSP00000401088.1:n.*1209G>T
ENST00000432427.2:c.1169G>T (RAF1)	ENSP00000398591.2:p.Trp390Leu
ENST00000442415.6:c.1592G>T (RAF1)	ENSP00000401888.2:p.Trp531Leu
ENST00000471449.1:n.221G>T (RAF1)
NM_002880.3:c.1532G>T , LRG_413t1:c.1532G>T (RAF1)	NP_002871.1:p.Trp511Leu
XM_005265355.1:c.1532G>T (RAF1)	XP_005265412.1:p.Trp511Leu
XM_005265357.1:c.1433G>T (RAF1)	XP_005265414.1:p.Trp478Leu
XM_005265358.3:c.1289G>T (RAF1)	XP_005265415.1:p.Trp430Leu
XM_005265359.3:c.1190G>T (RAF1)	XP_005265416.1:p.Trp397Leu
XM_005265360.1:c.1418-279G>T (RAF1)	XP_005265417.1:n.1418-279G>T
XM_011533974.1:c.1532G>T (RAF1)	XP_011532276.1:p.Trp511Leu
XM_011533975.1:c.1289G>T (RAF1)	XP_011532277.1:p.Trp430Leu
NM_001354689.1:c.1592G>T (RAF1)	NP_001341618.1:p.Trp531Leu
NM_001354690.1:c.1532G>T (RAF1)	NP_001341619.1:p.Trp511Leu
NM_001354691.1:c.1289G>T (RAF1)	NP_001341620.1:p.Trp430Leu
NM_001354692.1:c.1289G>T (RAF1)	NP_001341621.1:p.Trp430Leu
NM_001354693.1:c.1433G>T (RAF1)	NP_001341622.1:p.Trp478Leu
NM_001354694.1:c.1349G>T (RAF1)	NP_001341623.1:p.Trp450Leu
NM_001354695.1:c.1190G>T (RAF1)	NP_001341624.1:p.Trp397Leu
NR_148940.1:n.2060G>T (RAF1)
NR_148941.1:n.2006G>T (RAF1)
NR_148942.1:n.1945G>T (RAF1)
XM_011533974.3:c.1532G>T (RAF1)	XP_011532276.1:p.Trp511Leu
XM_017006966.1:c.1433G>T (RAF1)	XP_016862455.1:p.Trp478Leu
NM_001354689.3:c.1592G>T (RAF1)	NP_001341618.1:p.Trp531Leu
NM_001354690.2:c.1532G>T (RAF1)	NP_001341619.1:p.Trp511Leu
NM_001354691.2:c.1289G>T (RAF1)	NP_001341620.1:p.Trp430Leu
NM_001354692.2:c.1289G>T (RAF1)	NP_001341621.1:p.Trp430Leu
NM_001354693.2:c.1433G>T (RAF1)	NP_001341622.1:p.Trp478Leu
NM_001354694.2:c.1349G>T (RAF1)	NP_001341623.1:p.Trp450Leu
NM_001354695.2:c.1190G>T (RAF1)	NP_001341624.1:p.Trp397Leu
NR_148940.2:n.1976G>T (RAF1)
NR_148941.2:n.1922G>T (RAF1)
NR_148942.2:n.1861G>T (RAF1)
NM_001354690.3:c.1532G>T (RAF1)	NP_001341619.1:p.Trp511Leu
NM_001354691.3:c.1289G>T (RAF1)	NP_001341620.1:p.Trp430Leu
NM_001354692.3:c.1289G>T (RAF1)	NP_001341621.1:p.Trp430Leu
NM_001354693.3:c.1433G>T (RAF1)	NP_001341622.1:p.Trp478Leu
NM_001354694.3:c.1349G>T (RAF1)	NP_001341623.1:p.Trp450Leu
NM_001354695.3:c.1190G>T (RAF1)	NP_001341624.1:p.Trp397Leu
NM_002880.4:c.1532G>T (RAF1) MANE Select	NP_002871.1:p.Trp511Leu
NR_148940.3:n.1976G>T (RAF1)
NR_148941.3:n.1922G>T (RAF1)
NR_148942.3:n.1861G>T (RAF1)