Canonical Allele Identifier: CA351498825

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs2125325520
• gnomAD v4: 3-12585692-C-G
• MyVariant Identifiers: chr3:g.12627191C>G (hg19) ; chr3:g.12585692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12585692C>G , CM000665.2:g.12585692C>G	GRCh38
NC_000003.11:g.12627191C>G , CM000665.1:g.12627191C>G	GRCh37
NC_000003.10:g.12602191C>G	NCBI36
NG_007467.1:g.83488G>C , LRG_413:g.83488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1190G>C (RAF1)	ENSP00000401088.1:n.*1190G>C
ENST00000432427.3:c.842G>C (RAF1)
ENST00000460610.2:n.5270G>C (RAF1)
ENST00000471449.2:n.335G>C (RAF1)
ENST00000475353.2:n.3238G>C (RAF1)
ENST00000684903.1:c.*1202G>C (RAF1)	ENSP00000508612.1:n.*1202G>C
ENST00000685348.1:c.*1095-286G>C (RAF1)	ENSP00000510285.1:n.*1095-286G>C
ENST00000685437.1:c.1426G>C (RAF1)	ENSP00000508794.1:p.Val476Leu
ENST00000685653.1:c.1525G>C (RAF1)	ENSP00000509968.1:p.Val509Leu
ENST00000685697.1:n.2260G>C (RAF1)
ENST00000685738.1:c.*489G>C (RAF1)	ENSP00000510156.1:n.*489G>C
ENST00000686409.1:n.4367G>C (RAF1)
ENST00000686455.1:n.3679G>C (RAF1)
ENST00000686762.1:c.*84G>C (RAF1)	ENSP00000509767.1:n.*84G>C
ENST00000687257.1:n.3552G>C (RAF1)
ENST00000687326.1:c.*2250G>C (RAF1)	ENSP00000509665.1:n.*2250G>C
ENST00000687505.1:n.1643G>C (RAF1)
ENST00000687923.1:c.1414G>C (RAF1)	ENSP00000510255.1:p.Val472Leu
ENST00000688269.1:n.2121G>C (RAF1)
ENST00000688444.1:n.3642G>C (RAF1)
ENST00000688543.1:c.1426G>C (RAF1)	ENSP00000509612.1:p.Val476Leu
ENST00000688625.1:c.*2894G>C (RAF1)	ENSP00000509522.1:n.*2894G>C
ENST00000688803.1:n.2965-439G>C (RAF1)
ENST00000688914.1:n.511G>C (RAF1)
ENST00000689097.1:c.*1202G>C (RAF1)	ENSP00000509756.1:n.*1202G>C
ENST00000689389.1:c.1348G>C (RAF1)	ENSP00000510213.1:p.Val450Leu
ENST00000689418.1:c.*2993G>C (RAF1)	ENSP00000509467.1:n.*2993G>C
ENST00000689540.1:n.3466G>C (RAF1)
ENST00000689876.1:c.1418-286G>C (RAF1)	ENSP00000508535.1:n.1418-286G>C
ENST00000689914.1:c.*459G>C (RAF1)	ENSP00000509847.1:n.*459G>C
ENST00000690397.1:c.1414G>C (RAF1)	ENSP00000508730.1:p.Val472Leu
ENST00000690460.1:c.1513G>C (RAF1)	ENSP00000509106.1:p.Val505Leu
ENST00000690585.1:c.263-439G>C (RAF1)
ENST00000690625.1:n.2561G>C (RAF1)
ENST00000691396.1:c.*1397G>C (RAF1)	ENSP00000510712.1:n.*1397G>C
ENST00000691643.1:n.2151G>C (RAF1)
ENST00000691724.1:c.*482G>C (RAF1)	ENSP00000509255.1:n.*482G>C
ENST00000691779.1:c.*1103G>C (RAF1)	ENSP00000508592.1:n.*1103G>C
ENST00000691888.1:c.399G>C (RAF1)
ENST00000691899.1:c.1525G>C (RAF1)	ENSP00000508763.1:p.Val509Leu
ENST00000692069.1:n.3882G>C (RAF1)
ENST00000692093.1:c.1426G>C (RAF1)	ENSP00000509669.1:p.Val476Leu
ENST00000692311.1:n.2349G>C (RAF1)
ENST00000692558.1:n.3681G>C (RAF1)
ENST00000692773.1:c.*1262G>C (RAF1)	ENSP00000509055.1:n.*1262G>C
ENST00000692830.1:c.*1270G>C (RAF1)	ENSP00000509461.1:n.*1270G>C
ENST00000693312.1:c.1300G>C (RAF1)	ENSP00000508686.1:p.Val434Leu
ENST00000693664.1:c.1488-439G>C (RAF1)	ENSP00000509614.1:n.1488-439G>C
ENST00000693705.1:c.*1048-711G>C (RAF1)	ENSP00000510697.1:n.*1048-711G>C
ENST00000251849.9:c.1525G>C (RAF1) MANE Select	ENSP00000251849.4:p.Val509Leu
ENST00000442415.7:c.1585G>C (RAF1)	ENSP00000401888.2:p.Val529Leu
ENST00000676541.1:c.*3439C>G (MKRN2)	ENSP00000503730.1:n.*3439C>G
ENST00000677142.1:c.*3439C>G (MKRN2)	ENSP00000504455.1:n.*3439C>G
ENST00000677816.1:c.*1994C>G (MKRN2)	ENSP00000502893.1:n.*1994C>G
ENST00000677941.1:n.3502C>G (MKRN2)
ENST00000251849.8:c.1525G>C (RAF1)	ENSP00000251849.4:p.Val509Leu
ENST00000423275.5:c.*1202G>C (RAF1)	ENSP00000401088.1:n.*1202G>C
ENST00000432427.2:c.1162G>C (RAF1)	ENSP00000398591.2:p.Val388Leu
ENST00000442415.6:c.1585G>C (RAF1)	ENSP00000401888.2:p.Val529Leu
ENST00000471449.1:n.214G>C (RAF1)
NM_002880.3:c.1525G>C , LRG_413t1:c.1525G>C (RAF1)	NP_002871.1:p.Val509Leu
XM_005265355.1:c.1525G>C (RAF1)	XP_005265412.1:p.Val509Leu
XM_005265357.1:c.1426G>C (RAF1)	XP_005265414.1:p.Val476Leu
XM_005265358.3:c.1282G>C (RAF1)	XP_005265415.1:p.Val428Leu
XM_005265359.3:c.1183G>C (RAF1)	XP_005265416.1:p.Val395Leu
XM_005265360.1:c.1418-286G>C (RAF1)	XP_005265417.1:n.1418-286G>C
XM_011533974.1:c.1525G>C (RAF1)	XP_011532276.1:p.Val509Leu
XM_011533975.1:c.1282G>C (RAF1)	XP_011532277.1:p.Val428Leu
NM_001354689.1:c.1585G>C (RAF1)	NP_001341618.1:p.Val529Leu
NM_001354690.1:c.1525G>C (RAF1)	NP_001341619.1:p.Val509Leu
NM_001354691.1:c.1282G>C (RAF1)	NP_001341620.1:p.Val428Leu
NM_001354692.1:c.1282G>C (RAF1)	NP_001341621.1:p.Val428Leu
NM_001354693.1:c.1426G>C (RAF1)	NP_001341622.1:p.Val476Leu
NM_001354694.1:c.1342G>C (RAF1)	NP_001341623.1:p.Val448Leu
NM_001354695.1:c.1183G>C (RAF1)	NP_001341624.1:p.Val395Leu
NR_148940.1:n.2053G>C (RAF1)
NR_148941.1:n.1999G>C (RAF1)
NR_148942.1:n.1938G>C (RAF1)
XM_011533974.3:c.1525G>C (RAF1)	XP_011532276.1:p.Val509Leu
XM_017006966.1:c.1426G>C (RAF1)	XP_016862455.1:p.Val476Leu
NM_001354689.3:c.1585G>C (RAF1)	NP_001341618.1:p.Val529Leu
NM_001354690.2:c.1525G>C (RAF1)	NP_001341619.1:p.Val509Leu
NM_001354691.2:c.1282G>C (RAF1)	NP_001341620.1:p.Val428Leu
NM_001354692.2:c.1282G>C (RAF1)	NP_001341621.1:p.Val428Leu
NM_001354693.2:c.1426G>C (RAF1)	NP_001341622.1:p.Val476Leu
NM_001354694.2:c.1342G>C (RAF1)	NP_001341623.1:p.Val448Leu
NM_001354695.2:c.1183G>C (RAF1)	NP_001341624.1:p.Val395Leu
NR_148940.2:n.1969G>C (RAF1)
NR_148941.2:n.1915G>C (RAF1)
NR_148942.2:n.1854G>C (RAF1)
NM_001354690.3:c.1525G>C (RAF1)	NP_001341619.1:p.Val509Leu
NM_001354691.3:c.1282G>C (RAF1)	NP_001341620.1:p.Val428Leu
NM_001354692.3:c.1282G>C (RAF1)	NP_001341621.1:p.Val428Leu
NM_001354693.3:c.1426G>C (RAF1)	NP_001341622.1:p.Val476Leu
NM_001354694.3:c.1342G>C (RAF1)	NP_001341623.1:p.Val448Leu
NM_001354695.3:c.1183G>C (RAF1)	NP_001341624.1:p.Val395Leu
NM_002880.4:c.1525G>C (RAF1) MANE Select	NP_002871.1:p.Val509Leu
NR_148940.3:n.1969G>C (RAF1)
NR_148941.3:n.1915G>C (RAF1)
NR_148942.3:n.1854G>C (RAF1)