Canonical Allele Identifier: CA351498746

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 2865596
• ClinVar RCV Id: RCV003654474
• dbSNP Id: rs2125325424
• MyVariant Identifiers: chr3:g.12627180C>T (hg19) ; chr3:g.12585681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585681C>T , CM000665.2:g.12585681C>T	GRCh38
NC_000003.11:g.12627180C>T , CM000665.1:g.12627180C>T	GRCh37
NC_000003.10:g.12602180C>T	NCBI36
NG_007467.1:g.83499G>A , LRG_413:g.83499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1201G>A (RAF1)	ENSP00000401088.1:n.*1201G>A
ENST00000432427.3:c.853G>A (RAF1)
ENST00000460610.2:n.5281G>A (RAF1)
ENST00000471449.2:n.346G>A (RAF1)
ENST00000475353.2:n.3249G>A (RAF1)
ENST00000684903.1:c.*1213G>A (RAF1)	ENSP00000508612.1:n.*1213G>A
ENST00000685348.1:c.*1095-275G>A (RAF1)	ENSP00000510285.1:n.*1095-275G>A
ENST00000685437.1:c.1437G>A (RAF1)	ENSP00000508794.1:p.Met479Ile
ENST00000685653.1:c.1536G>A (RAF1)	ENSP00000509968.1:p.Met512Ile
ENST00000685697.1:n.2271G>A (RAF1)
ENST00000685738.1:c.*500G>A (RAF1)	ENSP00000510156.1:n.*500G>A
ENST00000686409.1:n.4378G>A (RAF1)
ENST00000686455.1:n.3690G>A (RAF1)
ENST00000686762.1:c.*95G>A (RAF1)	ENSP00000509767.1:n.*95G>A
ENST00000687257.1:n.3563G>A (RAF1)
ENST00000687326.1:c.*2261G>A (RAF1)	ENSP00000509665.1:n.*2261G>A
ENST00000687505.1:n.1654G>A (RAF1)
ENST00000687923.1:c.1425G>A (RAF1)	ENSP00000510255.1:p.Met475Ile
ENST00000688269.1:n.2132G>A (RAF1)
ENST00000688444.1:n.3653G>A (RAF1)
ENST00000688543.1:c.1437G>A (RAF1)	ENSP00000509612.1:p.Met479Ile
ENST00000688625.1:c.*2905G>A (RAF1)	ENSP00000509522.1:n.*2905G>A
ENST00000688803.1:n.2965-428G>A (RAF1)
ENST00000688914.1:n.522G>A (RAF1)
ENST00000689097.1:c.*1213G>A (RAF1)	ENSP00000509756.1:n.*1213G>A
ENST00000689389.1:c.1359G>A (RAF1)	ENSP00000510213.1:p.Met453Ile
ENST00000689418.1:c.*3004G>A (RAF1)	ENSP00000509467.1:n.*3004G>A
ENST00000689540.1:n.3477G>A (RAF1)
ENST00000689876.1:c.1418-275G>A (RAF1)	ENSP00000508535.1:n.1418-275G>A
ENST00000689914.1:c.*470G>A (RAF1)	ENSP00000509847.1:n.*470G>A
ENST00000690397.1:c.1425G>A (RAF1)	ENSP00000508730.1:p.Met475Ile
ENST00000690460.1:c.1524G>A (RAF1)	ENSP00000509106.1:p.Met508Ile
ENST00000690585.1:c.263-428G>A (RAF1)
ENST00000690625.1:n.2572G>A (RAF1)
ENST00000691396.1:c.*1408G>A (RAF1)	ENSP00000510712.1:n.*1408G>A
ENST00000691643.1:n.2162G>A (RAF1)
ENST00000691724.1:c.*493G>A (RAF1)	ENSP00000509255.1:n.*493G>A
ENST00000691779.1:c.*1114G>A (RAF1)	ENSP00000508592.1:n.*1114G>A
ENST00000691888.1:c.410G>A (RAF1)
ENST00000691899.1:c.1536G>A (RAF1)	ENSP00000508763.1:p.Met512Ile
ENST00000692069.1:n.3893G>A (RAF1)
ENST00000692093.1:c.1437G>A (RAF1)	ENSP00000509669.1:p.Met479Ile
ENST00000692311.1:n.2360G>A (RAF1)
ENST00000692558.1:n.3692G>A (RAF1)
ENST00000692773.1:c.*1273G>A (RAF1)	ENSP00000509055.1:n.*1273G>A
ENST00000692830.1:c.*1281G>A (RAF1)	ENSP00000509461.1:n.*1281G>A
ENST00000693312.1:c.1311G>A (RAF1)	ENSP00000508686.1:p.Met437Ile
ENST00000693664.1:c.1488-428G>A (RAF1)	ENSP00000509614.1:n.1488-428G>A
ENST00000693705.1:c.*1048-700G>A (RAF1)	ENSP00000510697.1:n.*1048-700G>A
ENST00000251849.9:c.1536G>A (RAF1) MANE Select	ENSP00000251849.4:p.Met512Ile
ENST00000442415.7:c.1596G>A (RAF1)	ENSP00000401888.2:p.Met532Ile
ENST00000676541.1:c.*3428C>T (MKRN2)	ENSP00000503730.1:n.*3428C>T
ENST00000677142.1:c.*3428C>T (MKRN2)	ENSP00000504455.1:n.*3428C>T
ENST00000677816.1:c.*1983C>T (MKRN2)	ENSP00000502893.1:n.*1983C>T
ENST00000677941.1:n.3491C>T (MKRN2)
ENST00000251849.8:c.1536G>A (RAF1)	ENSP00000251849.4:p.Met512Ile
ENST00000423275.5:c.*1213G>A (RAF1)	ENSP00000401088.1:n.*1213G>A
ENST00000432427.2:c.1173G>A (RAF1)	ENSP00000398591.2:p.Met391Ile
ENST00000442415.6:c.1596G>A (RAF1)	ENSP00000401888.2:p.Met532Ile
ENST00000471449.1:n.225G>A (RAF1)
NM_002880.3:c.1536G>A , LRG_413t1:c.1536G>A (RAF1)	NP_002871.1:p.Met512Ile
XM_005265355.1:c.1536G>A (RAF1)	XP_005265412.1:p.Met512Ile
XM_005265357.1:c.1437G>A (RAF1)	XP_005265414.1:p.Met479Ile
XM_005265358.3:c.1293G>A (RAF1)	XP_005265415.1:p.Met431Ile
XM_005265359.3:c.1194G>A (RAF1)	XP_005265416.1:p.Met398Ile
XM_005265360.1:c.1418-275G>A (RAF1)	XP_005265417.1:n.1418-275G>A
XM_011533974.1:c.1536G>A (RAF1)	XP_011532276.1:p.Met512Ile
XM_011533975.1:c.1293G>A (RAF1)	XP_011532277.1:p.Met431Ile
NM_001354689.1:c.1596G>A (RAF1)	NP_001341618.1:p.Met532Ile
NM_001354690.1:c.1536G>A (RAF1)	NP_001341619.1:p.Met512Ile
NM_001354691.1:c.1293G>A (RAF1)	NP_001341620.1:p.Met431Ile
NM_001354692.1:c.1293G>A (RAF1)	NP_001341621.1:p.Met431Ile
NM_001354693.1:c.1437G>A (RAF1)	NP_001341622.1:p.Met479Ile
NM_001354694.1:c.1353G>A (RAF1)	NP_001341623.1:p.Met451Ile
NM_001354695.1:c.1194G>A (RAF1)	NP_001341624.1:p.Met398Ile
NR_148940.1:n.2064G>A (RAF1)
NR_148941.1:n.2010G>A (RAF1)
NR_148942.1:n.1949G>A (RAF1)
XM_011533974.3:c.1536G>A (RAF1)	XP_011532276.1:p.Met512Ile
XM_017006966.1:c.1437G>A (RAF1)	XP_016862455.1:p.Met479Ile
NM_001354689.3:c.1596G>A (RAF1)	NP_001341618.1:p.Met532Ile
NM_001354690.2:c.1536G>A (RAF1)	NP_001341619.1:p.Met512Ile
NM_001354691.2:c.1293G>A (RAF1)	NP_001341620.1:p.Met431Ile
NM_001354692.2:c.1293G>A (RAF1)	NP_001341621.1:p.Met431Ile
NM_001354693.2:c.1437G>A (RAF1)	NP_001341622.1:p.Met479Ile
NM_001354694.2:c.1353G>A (RAF1)	NP_001341623.1:p.Met451Ile
NM_001354695.2:c.1194G>A (RAF1)	NP_001341624.1:p.Met398Ile
NR_148940.2:n.1980G>A (RAF1)
NR_148941.2:n.1926G>A (RAF1)
NR_148942.2:n.1865G>A (RAF1)
NM_001354690.3:c.1536G>A (RAF1)	NP_001341619.1:p.Met512Ile
NM_001354691.3:c.1293G>A (RAF1)	NP_001341620.1:p.Met431Ile
NM_001354692.3:c.1293G>A (RAF1)	NP_001341621.1:p.Met431Ile
NM_001354693.3:c.1437G>A (RAF1)	NP_001341622.1:p.Met479Ile
NM_001354694.3:c.1353G>A (RAF1)	NP_001341623.1:p.Met451Ile
NM_001354695.3:c.1194G>A (RAF1)	NP_001341624.1:p.Met398Ile
NM_002880.4:c.1536G>A (RAF1) MANE Select	NP_002871.1:p.Met512Ile
NR_148940.3:n.1980G>A (RAF1)
NR_148941.3:n.1926G>A (RAF1)
NR_148942.3:n.1865G>A (RAF1)