Canonical Allele Identifier: CA2259491

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs778788727
• ExAC: 3:12627200 T / C
• gnomAD v2: 3-12627200-T-C
• gnomAD v4: 3-12585701-T-C
• MyVariant Identifiers: chr3:g.12627200T>C (hg19) ; chr3:g.12585701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585701T>C , CM000665.2:g.12585701T>C	GRCh38
NC_000003.11:g.12627200T>C , CM000665.1:g.12627200T>C	GRCh37
NC_000003.10:g.12602200T>C	NCBI36
NG_007467.1:g.83479A>G , LRG_413:g.83479A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1181A>G (RAF1)	ENSP00000401088.1:n.*1181A>G
ENST00000432427.3:c.833A>G (RAF1)
ENST00000460610.2:n.5261A>G (RAF1)
ENST00000471449.2:n.326A>G (RAF1)
ENST00000475353.2:n.3229A>G (RAF1)
ENST00000684903.1:c.*1193A>G (RAF1)	ENSP00000508612.1:n.*1193A>G
ENST00000685348.1:c.*1095-295A>G (RAF1)	ENSP00000510285.1:n.*1095-295A>G
ENST00000685437.1:c.1417A>G (RAF1)	ENSP00000508794.1:p.Thr473Ala
ENST00000685653.1:c.1516A>G (RAF1)	ENSP00000509968.1:p.Thr506Ala
ENST00000685697.1:n.2251A>G (RAF1)
ENST00000685738.1:c.*480A>G (RAF1)	ENSP00000510156.1:n.*480A>G
ENST00000686409.1:n.4358A>G (RAF1)
ENST00000686455.1:n.3670A>G (RAF1)
ENST00000686762.1:c.*75A>G (RAF1)	ENSP00000509767.1:n.*75A>G
ENST00000687257.1:n.3543A>G (RAF1)
ENST00000687326.1:c.*2241A>G (RAF1)	ENSP00000509665.1:n.*2241A>G
ENST00000687505.1:n.1634A>G (RAF1)
ENST00000687923.1:c.1405A>G (RAF1)	ENSP00000510255.1:p.Thr469Ala
ENST00000688269.1:n.2112A>G (RAF1)
ENST00000688444.1:n.3633A>G (RAF1)
ENST00000688543.1:c.1417A>G (RAF1)	ENSP00000509612.1:p.Thr473Ala
ENST00000688625.1:c.*2885A>G (RAF1)	ENSP00000509522.1:n.*2885A>G
ENST00000688803.1:n.2965-448A>G (RAF1)
ENST00000688914.1:n.502A>G (RAF1)
ENST00000689097.1:c.*1193A>G (RAF1)	ENSP00000509756.1:n.*1193A>G
ENST00000689389.1:c.1339A>G (RAF1)	ENSP00000510213.1:p.Thr447Ala
ENST00000689418.1:c.*2984A>G (RAF1)	ENSP00000509467.1:n.*2984A>G
ENST00000689540.1:n.3457A>G (RAF1)
ENST00000689876.1:c.1418-295A>G (RAF1)	ENSP00000508535.1:n.1418-295A>G
ENST00000689914.1:c.*450A>G (RAF1)	ENSP00000509847.1:n.*450A>G
ENST00000690397.1:c.1405A>G (RAF1)	ENSP00000508730.1:p.Thr469Ala
ENST00000690460.1:c.1504A>G (RAF1)	ENSP00000509106.1:p.Thr502Ala
ENST00000690585.1:c.263-448A>G (RAF1)
ENST00000690625.1:n.2552A>G (RAF1)
ENST00000691396.1:c.*1388A>G (RAF1)	ENSP00000510712.1:n.*1388A>G
ENST00000691643.1:n.2142A>G (RAF1)
ENST00000691724.1:c.*473A>G (RAF1)	ENSP00000509255.1:n.*473A>G
ENST00000691779.1:c.*1094A>G (RAF1)	ENSP00000508592.1:n.*1094A>G
ENST00000691888.1:c.390A>G (RAF1)
ENST00000691899.1:c.1516A>G (RAF1)	ENSP00000508763.1:p.Thr506Ala
ENST00000692069.1:n.3873A>G (RAF1)
ENST00000692093.1:c.1417A>G (RAF1)	ENSP00000509669.1:p.Thr473Ala
ENST00000692311.1:n.2340A>G (RAF1)
ENST00000692558.1:n.3672A>G (RAF1)
ENST00000692773.1:c.*1253A>G (RAF1)	ENSP00000509055.1:n.*1253A>G
ENST00000692830.1:c.*1261A>G (RAF1)	ENSP00000509461.1:n.*1261A>G
ENST00000693312.1:c.1291A>G (RAF1)	ENSP00000508686.1:p.Thr431Ala
ENST00000693664.1:c.1488-448A>G (RAF1)	ENSP00000509614.1:n.1488-448A>G
ENST00000693705.1:c.*1048-720A>G (RAF1)	ENSP00000510697.1:n.*1048-720A>G
ENST00000251849.9:c.1516A>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr506Ala
ENST00000442415.7:c.1576A>G (RAF1)	ENSP00000401888.2:p.Thr526Ala
ENST00000676541.1:c.*3448T>C (MKRN2)	ENSP00000503730.1:n.*3448T>C
ENST00000677142.1:c.*3448T>C (MKRN2)	ENSP00000504455.1:n.*3448T>C
ENST00000677816.1:c.*2003T>C (MKRN2)	ENSP00000502893.1:n.*2003T>C
ENST00000677941.1:n.3511T>C (MKRN2)
ENST00000251849.8:c.1516A>G (RAF1)	ENSP00000251849.4:p.Thr506Ala
ENST00000423275.5:c.*1193A>G (RAF1)	ENSP00000401088.1:n.*1193A>G
ENST00000432427.2:c.1153A>G (RAF1)	ENSP00000398591.2:p.Thr385Ala
ENST00000442415.6:c.1576A>G (RAF1)	ENSP00000401888.2:p.Thr526Ala
ENST00000471449.1:n.205A>G (RAF1)
NM_002880.3:c.1516A>G , LRG_413t1:c.1516A>G (RAF1)	NP_002871.1:p.Thr506Ala
XM_005265355.1:c.1516A>G (RAF1)	XP_005265412.1:p.Thr506Ala
XM_005265357.1:c.1417A>G (RAF1)	XP_005265414.1:p.Thr473Ala
XM_005265358.3:c.1273A>G (RAF1)	XP_005265415.1:p.Thr425Ala
XM_005265359.3:c.1174A>G (RAF1)	XP_005265416.1:p.Thr392Ala
XM_005265360.1:c.1418-295A>G (RAF1)	XP_005265417.1:n.1418-295A>G
XM_011533974.1:c.1516A>G (RAF1)	XP_011532276.1:p.Thr506Ala
XM_011533975.1:c.1273A>G (RAF1)	XP_011532277.1:p.Thr425Ala
NM_001354689.1:c.1576A>G (RAF1)	NP_001341618.1:p.Thr526Ala
NM_001354690.1:c.1516A>G (RAF1)	NP_001341619.1:p.Thr506Ala
NM_001354691.1:c.1273A>G (RAF1)	NP_001341620.1:p.Thr425Ala
NM_001354692.1:c.1273A>G (RAF1)	NP_001341621.1:p.Thr425Ala
NM_001354693.1:c.1417A>G (RAF1)	NP_001341622.1:p.Thr473Ala
NM_001354694.1:c.1333A>G (RAF1)	NP_001341623.1:p.Thr445Ala
NM_001354695.1:c.1174A>G (RAF1)	NP_001341624.1:p.Thr392Ala
NR_148940.1:n.2044A>G (RAF1)
NR_148941.1:n.1990A>G (RAF1)
NR_148942.1:n.1929A>G (RAF1)
XM_011533974.3:c.1516A>G (RAF1)	XP_011532276.1:p.Thr506Ala
XM_017006966.1:c.1417A>G (RAF1)	XP_016862455.1:p.Thr473Ala
NM_001354689.3:c.1576A>G (RAF1)	NP_001341618.1:p.Thr526Ala
NM_001354690.2:c.1516A>G (RAF1)	NP_001341619.1:p.Thr506Ala
NM_001354691.2:c.1273A>G (RAF1)	NP_001341620.1:p.Thr425Ala
NM_001354692.2:c.1273A>G (RAF1)	NP_001341621.1:p.Thr425Ala
NM_001354693.2:c.1417A>G (RAF1)	NP_001341622.1:p.Thr473Ala
NM_001354694.2:c.1333A>G (RAF1)	NP_001341623.1:p.Thr445Ala
NM_001354695.2:c.1174A>G (RAF1)	NP_001341624.1:p.Thr392Ala
NR_148940.2:n.1960A>G (RAF1)
NR_148941.2:n.1906A>G (RAF1)
NR_148942.2:n.1845A>G (RAF1)
NM_001354690.3:c.1516A>G (RAF1)	NP_001341619.1:p.Thr506Ala
NM_001354691.3:c.1273A>G (RAF1)	NP_001341620.1:p.Thr425Ala
NM_001354692.3:c.1273A>G (RAF1)	NP_001341621.1:p.Thr425Ala
NM_001354693.3:c.1417A>G (RAF1)	NP_001341622.1:p.Thr473Ala
NM_001354694.3:c.1333A>G (RAF1)	NP_001341623.1:p.Thr445Ala
NM_001354695.3:c.1174A>G (RAF1)	NP_001341624.1:p.Thr392Ala
NM_002880.4:c.1516A>G (RAF1) MANE Select	NP_002871.1:p.Thr506Ala
NR_148940.3:n.1960A>G (RAF1)
NR_148941.3:n.1906A>G (RAF1)
NR_148942.3:n.1845A>G (RAF1)