Canonical Allele Identifier: CA351495730

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584572-T-G
• MyVariant Identifiers: chr3:g.12626071T>G (hg19) ; chr3:g.12584572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584572T>G , CM000665.2:g.12584572T>G	GRCh38
NC_000003.11:g.12626071T>G , CM000665.1:g.12626071T>G	GRCh37
NC_000003.10:g.12601071T>G	NCBI36
NG_007467.1:g.84608A>C , LRG_413:g.84608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1554A>C (RAF1)	ENSP00000401088.1:n.*1554A>C
ENST00000432427.3:c.1206A>C (RAF1)
ENST00000460610.2:n.6201A>C (RAF1)
ENST00000471449.2:n.699A>C (RAF1)
ENST00000475353.2:n.4169A>C (RAF1)
ENST00000684903.1:c.*1566A>C (RAF1)	ENSP00000508612.1:n.*1566A>C
ENST00000685348.1:c.*1600A>C (RAF1)	ENSP00000510285.1:n.*1600A>C
ENST00000685437.1:c.1790A>C (RAF1)	ENSP00000508794.1:p.His597Pro
ENST00000685653.1:c.1889A>C (RAF1)	ENSP00000509968.1:p.His630Pro
ENST00000685697.1:n.2624A>C (RAF1)
ENST00000685738.1:c.*853A>C (RAF1)	ENSP00000510156.1:n.*853A>C
ENST00000686409.1:n.5298A>C (RAF1)
ENST00000686455.1:n.4610A>C (RAF1)
ENST00000686762.1:c.*448A>C (RAF1)	ENSP00000509767.1:n.*448A>C
ENST00000687257.1:n.4343A>C (RAF1)
ENST00000687326.1:c.*3181A>C (RAF1)	ENSP00000509665.1:n.*3181A>C
ENST00000687505.1:n.2007A>C (RAF1)
ENST00000687923.1:c.1778A>C (RAF1)	ENSP00000510255.1:p.His593Pro
ENST00000688269.1:n.2485A>C (RAF1)
ENST00000688444.1:n.4006A>C (RAF1)
ENST00000688543.1:c.1790A>C (RAF1)	ENSP00000509612.1:p.His597Pro
ENST00000688625.1:c.*3258A>C (RAF1)	ENSP00000509522.1:n.*3258A>C
ENST00000688803.1:n.3317A>C (RAF1)
ENST00000689097.1:c.*1566A>C (RAF1)	ENSP00000509756.1:n.*1566A>C
ENST00000689389.1:c.1712A>C (RAF1)	ENSP00000510213.1:p.His571Pro
ENST00000689418.1:c.*3784A>C (RAF1)	ENSP00000509467.1:n.*3784A>C
ENST00000689540.1:n.4257A>C (RAF1)
ENST00000689876.1:c.*438A>C (RAF1)	ENSP00000508535.1:n.*438A>C
ENST00000689914.1:c.*823A>C (RAF1)	ENSP00000509847.1:n.*823A>C
ENST00000690397.1:c.1778A>C (RAF1)	ENSP00000508730.1:p.His593Pro
ENST00000690460.1:c.1877A>C (RAF1)	ENSP00000509106.1:p.His626Pro
ENST00000690585.1:c.615A>C (RAF1)
ENST00000690625.1:n.2925A>C (RAF1)
ENST00000691396.1:c.*1761A>C (RAF1)	ENSP00000510712.1:n.*1761A>C
ENST00000691643.1:n.2942A>C (RAF1)
ENST00000691724.1:c.*846A>C (RAF1)	ENSP00000509255.1:n.*846A>C
ENST00000691779.1:c.*1467A>C (RAF1)	ENSP00000508592.1:n.*1467A>C
ENST00000691888.1:c.763A>C (RAF1)
ENST00000691899.1:c.1889A>C (RAF1)	ENSP00000508763.1:p.His630Pro
ENST00000692069.1:n.4813A>C (RAF1)
ENST00000692093.1:c.1790A>C (RAF1)	ENSP00000509669.1:p.His597Pro
ENST00000692311.1:n.2713A>C (RAF1)
ENST00000692558.1:n.4472A>C (RAF1)
ENST00000692773.1:c.*1626A>C (RAF1)	ENSP00000509055.1:n.*1626A>C
ENST00000692830.1:c.*1634A>C (RAF1)	ENSP00000509461.1:n.*1634A>C
ENST00000693312.1:c.1664A>C (RAF1)	ENSP00000508686.1:p.His555Pro
ENST00000693664.1:c.*340A>C (RAF1)	ENSP00000509614.1:n.*340A>C
ENST00000693705.1:c.*1268A>C (RAF1)	ENSP00000510697.1:n.*1268A>C
ENST00000251849.9:c.1889A>C (RAF1) MANE Select	ENSP00000251849.4:p.His630Pro
ENST00000442415.7:c.1949A>C (RAF1)	ENSP00000401888.2:p.His650Pro
ENST00000676541.1:c.*2319T>G (MKRN2)	ENSP00000503730.1:n.*2319T>G
ENST00000677142.1:c.*2319T>G (MKRN2)	ENSP00000504455.1:n.*2319T>G
ENST00000677816.1:c.*874T>G (MKRN2)	ENSP00000502893.1:n.*874T>G
ENST00000677941.1:n.2382T>G (MKRN2)
ENST00000251849.8:c.1889A>C (RAF1)	ENSP00000251849.4:p.His630Pro
ENST00000423275.5:c.*1566A>C (RAF1)	ENSP00000401088.1:n.*1566A>C
ENST00000432427.2:c.1526A>C (RAF1)	ENSP00000398591.2:p.His509Pro
ENST00000442415.6:c.1949A>C (RAF1)	ENSP00000401888.2:p.His650Pro
ENST00000471449.1:n.578A>C (RAF1)
NM_002880.3:c.1889A>C , LRG_413t1:c.1889A>C (RAF1)	NP_002871.1:p.His630Pro
XM_005265355.1:c.1889A>C (RAF1)	XP_005265412.1:p.His630Pro
XM_005265357.1:c.1790A>C (RAF1)	XP_005265414.1:p.His597Pro
XM_005265358.3:c.1646A>C (RAF1)	XP_005265415.1:p.His549Pro
XM_005265359.3:c.1547A>C (RAF1)	XP_005265416.1:p.His516Pro
XM_011533974.1:c.1889A>C (RAF1)	XP_011532276.1:p.His630Pro
XM_011533975.1:c.1646A>C (RAF1)	XP_011532277.1:p.His549Pro
NM_001354689.1:c.1949A>C (RAF1)	NP_001341618.1:p.His650Pro
NM_001354690.1:c.1889A>C (RAF1)	NP_001341619.1:p.His630Pro
NM_001354691.1:c.1646A>C (RAF1)	NP_001341620.1:p.His549Pro
NM_001354692.1:c.1646A>C (RAF1)	NP_001341621.1:p.His549Pro
NM_001354693.1:c.1790A>C (RAF1)	NP_001341622.1:p.His597Pro
NM_001354694.1:c.1706A>C (RAF1)	NP_001341623.1:p.His569Pro
NM_001354695.1:c.1547A>C (RAF1)	NP_001341624.1:p.His516Pro
NR_148940.1:n.2417A>C (RAF1)
NR_148941.1:n.2363A>C (RAF1)
NR_148942.1:n.2302A>C (RAF1)
XM_011533974.3:c.1889A>C (RAF1)	XP_011532276.1:p.His630Pro
XM_017006966.1:c.1790A>C (RAF1)	XP_016862455.1:p.His597Pro
NM_001354689.3:c.1949A>C (RAF1)	NP_001341618.1:p.His650Pro
NM_001354690.2:c.1889A>C (RAF1)	NP_001341619.1:p.His630Pro
NM_001354691.2:c.1646A>C (RAF1)	NP_001341620.1:p.His549Pro
NM_001354692.2:c.1646A>C (RAF1)	NP_001341621.1:p.His549Pro
NM_001354693.2:c.1790A>C (RAF1)	NP_001341622.1:p.His597Pro
NM_001354694.2:c.1706A>C (RAF1)	NP_001341623.1:p.His569Pro
NM_001354695.2:c.1547A>C (RAF1)	NP_001341624.1:p.His516Pro
NR_148940.2:n.2333A>C (RAF1)
NR_148941.2:n.2279A>C (RAF1)
NR_148942.2:n.2218A>C (RAF1)
NM_001354690.3:c.1889A>C (RAF1)	NP_001341619.1:p.His630Pro
NM_001354691.3:c.1646A>C (RAF1)	NP_001341620.1:p.His549Pro
NM_001354692.3:c.1646A>C (RAF1)	NP_001341621.1:p.His549Pro
NM_001354693.3:c.1790A>C (RAF1)	NP_001341622.1:p.His597Pro
NM_001354694.3:c.1706A>C (RAF1)	NP_001341623.1:p.His569Pro
NM_001354695.3:c.1547A>C (RAF1)	NP_001341624.1:p.His516Pro
NM_002880.4:c.1889A>C (RAF1) MANE Select	NP_002871.1:p.His630Pro
NR_148940.3:n.2333A>C (RAF1)
NR_148941.3:n.2279A>C (RAF1)
NR_148942.3:n.2218A>C (RAF1)