Canonical Allele Identifier: CA2259387

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs777419371
• ExAC: 3:12626147 A / C
• MyVariant Identifiers: chr3:g.12626147A>C (hg19) ; chr3:g.12584648A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584648A>C , CM000665.2:g.12584648A>C	GRCh38
NC_000003.11:g.12626147A>C , CM000665.1:g.12626147A>C	GRCh37
NC_000003.10:g.12601147A>C	NCBI36
NG_007467.1:g.84532T>G , LRG_413:g.84532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1478T>G (RAF1)	ENSP00000401088.1:n.*1478T>G
ENST00000432427.3:c.1130T>G (RAF1)
ENST00000460610.2:n.6125T>G (RAF1)
ENST00000471449.2:n.623T>G (RAF1)
ENST00000475353.2:n.4093T>G (RAF1)
ENST00000684903.1:c.*1490T>G (RAF1)	ENSP00000508612.1:n.*1490T>G
ENST00000685348.1:c.*1524T>G (RAF1)	ENSP00000510285.1:n.*1524T>G
ENST00000685437.1:c.1714T>G (RAF1)	ENSP00000508794.1:p.Ser572Ala
ENST00000685653.1:c.1813T>G (RAF1)	ENSP00000509968.1:p.Ser605Ala
ENST00000685697.1:n.2548T>G (RAF1)
ENST00000685738.1:c.*777T>G (RAF1)	ENSP00000510156.1:n.*777T>G
ENST00000686409.1:n.5222T>G (RAF1)
ENST00000686455.1:n.4534T>G (RAF1)
ENST00000686762.1:c.*372T>G (RAF1)	ENSP00000509767.1:n.*372T>G
ENST00000687257.1:n.4267T>G (RAF1)
ENST00000687326.1:c.*3105T>G (RAF1)	ENSP00000509665.1:n.*3105T>G
ENST00000687505.1:n.1931T>G (RAF1)
ENST00000687923.1:c.1702T>G (RAF1)	ENSP00000510255.1:p.Ser568Ala
ENST00000688269.1:n.2409T>G (RAF1)
ENST00000688444.1:n.3930T>G (RAF1)
ENST00000688543.1:c.1714T>G (RAF1)	ENSP00000509612.1:p.Ser572Ala
ENST00000688625.1:c.*3182T>G (RAF1)	ENSP00000509522.1:n.*3182T>G
ENST00000688803.1:n.3241T>G (RAF1)
ENST00000689097.1:c.*1490T>G (RAF1)	ENSP00000509756.1:n.*1490T>G
ENST00000689389.1:c.1636T>G (RAF1)	ENSP00000510213.1:p.Ser546Ala
ENST00000689418.1:c.*3708T>G (RAF1)	ENSP00000509467.1:n.*3708T>G
ENST00000689540.1:n.4181T>G (RAF1)
ENST00000689876.1:c.*362T>G (RAF1)	ENSP00000508535.1:n.*362T>G
ENST00000689914.1:c.*747T>G (RAF1)	ENSP00000509847.1:n.*747T>G
ENST00000690397.1:c.1702T>G (RAF1)	ENSP00000508730.1:p.Ser568Ala
ENST00000690460.1:c.1801T>G (RAF1)	ENSP00000509106.1:p.Ser601Ala
ENST00000690585.1:c.539T>G (RAF1)
ENST00000690625.1:n.2849T>G (RAF1)
ENST00000691396.1:c.*1685T>G (RAF1)	ENSP00000510712.1:n.*1685T>G
ENST00000691643.1:n.2866T>G (RAF1)
ENST00000691724.1:c.*770T>G (RAF1)	ENSP00000509255.1:n.*770T>G
ENST00000691779.1:c.*1391T>G (RAF1)	ENSP00000508592.1:n.*1391T>G
ENST00000691888.1:c.687T>G (RAF1)
ENST00000691899.1:c.1813T>G (RAF1)	ENSP00000508763.1:p.Ser605Ala
ENST00000692069.1:n.4737T>G (RAF1)
ENST00000692093.1:c.1714T>G (RAF1)	ENSP00000509669.1:p.Ser572Ala
ENST00000692311.1:n.2637T>G (RAF1)
ENST00000692558.1:n.4396T>G (RAF1)
ENST00000692773.1:c.*1550T>G (RAF1)	ENSP00000509055.1:n.*1550T>G
ENST00000692830.1:c.*1558T>G (RAF1)	ENSP00000509461.1:n.*1558T>G
ENST00000693312.1:c.1588T>G (RAF1)	ENSP00000508686.1:p.Ser530Ala
ENST00000693664.1:c.*264T>G (RAF1)	ENSP00000509614.1:n.*264T>G
ENST00000693705.1:c.*1192T>G (RAF1)	ENSP00000510697.1:n.*1192T>G
ENST00000251849.9:c.1813T>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser605Ala
ENST00000442415.7:c.1873T>G (RAF1)	ENSP00000401888.2:p.Ser625Ala
ENST00000676541.1:c.*2395A>C (MKRN2)	ENSP00000503730.1:n.*2395A>C
ENST00000677142.1:c.*2395A>C (MKRN2)	ENSP00000504455.1:n.*2395A>C
ENST00000677816.1:c.*950A>C (MKRN2)	ENSP00000502893.1:n.*950A>C
ENST00000677941.1:n.2458A>C (MKRN2)
ENST00000251849.8:c.1813T>G (RAF1)	ENSP00000251849.4:p.Ser605Ala
ENST00000423275.5:c.*1490T>G (RAF1)	ENSP00000401088.1:n.*1490T>G
ENST00000432427.2:c.1450T>G (RAF1)	ENSP00000398591.2:p.Ser484Ala
ENST00000442415.6:c.1873T>G (RAF1)	ENSP00000401888.2:p.Ser625Ala
ENST00000471449.1:n.502T>G (RAF1)
NM_002880.3:c.1813T>G , LRG_413t1:c.1813T>G (RAF1)	NP_002871.1:p.Ser605Ala
XM_005265355.1:c.1813T>G (RAF1)	XP_005265412.1:p.Ser605Ala
XM_005265357.1:c.1714T>G (RAF1)	XP_005265414.1:p.Ser572Ala
XM_005265358.3:c.1570T>G (RAF1)	XP_005265415.1:p.Ser524Ala
XM_005265359.3:c.1471T>G (RAF1)	XP_005265416.1:p.Ser491Ala
XM_011533974.1:c.1813T>G (RAF1)	XP_011532276.1:p.Ser605Ala
XM_011533975.1:c.1570T>G (RAF1)	XP_011532277.1:p.Ser524Ala
NM_001354689.1:c.1873T>G (RAF1)	NP_001341618.1:p.Ser625Ala
NM_001354690.1:c.1813T>G (RAF1)	NP_001341619.1:p.Ser605Ala
NM_001354691.1:c.1570T>G (RAF1)	NP_001341620.1:p.Ser524Ala
NM_001354692.1:c.1570T>G (RAF1)	NP_001341621.1:p.Ser524Ala
NM_001354693.1:c.1714T>G (RAF1)	NP_001341622.1:p.Ser572Ala
NM_001354694.1:c.1630T>G (RAF1)	NP_001341623.1:p.Ser544Ala
NM_001354695.1:c.1471T>G (RAF1)	NP_001341624.1:p.Ser491Ala
NR_148940.1:n.2341T>G (RAF1)
NR_148941.1:n.2287T>G (RAF1)
NR_148942.1:n.2226T>G (RAF1)
XM_011533974.3:c.1813T>G (RAF1)	XP_011532276.1:p.Ser605Ala
XM_017006966.1:c.1714T>G (RAF1)	XP_016862455.1:p.Ser572Ala
NM_001354689.3:c.1873T>G (RAF1)	NP_001341618.1:p.Ser625Ala
NM_001354690.2:c.1813T>G (RAF1)	NP_001341619.1:p.Ser605Ala
NM_001354691.2:c.1570T>G (RAF1)	NP_001341620.1:p.Ser524Ala
NM_001354692.2:c.1570T>G (RAF1)	NP_001341621.1:p.Ser524Ala
NM_001354693.2:c.1714T>G (RAF1)	NP_001341622.1:p.Ser572Ala
NM_001354694.2:c.1630T>G (RAF1)	NP_001341623.1:p.Ser544Ala
NM_001354695.2:c.1471T>G (RAF1)	NP_001341624.1:p.Ser491Ala
NR_148940.2:n.2257T>G (RAF1)
NR_148941.2:n.2203T>G (RAF1)
NR_148942.2:n.2142T>G (RAF1)
NM_001354690.3:c.1813T>G (RAF1)	NP_001341619.1:p.Ser605Ala
NM_001354691.3:c.1570T>G (RAF1)	NP_001341620.1:p.Ser524Ala
NM_001354692.3:c.1570T>G (RAF1)	NP_001341621.1:p.Ser524Ala
NM_001354693.3:c.1714T>G (RAF1)	NP_001341622.1:p.Ser572Ala
NM_001354694.3:c.1630T>G (RAF1)	NP_001341623.1:p.Ser544Ala
NM_001354695.3:c.1471T>G (RAF1)	NP_001341624.1:p.Ser491Ala
NM_002880.4:c.1813T>G (RAF1) MANE Select	NP_002871.1:p.Ser605Ala
NR_148940.3:n.2257T>G (RAF1)
NR_148941.3:n.2203T>G (RAF1)
NR_148942.3:n.2142T>G (RAF1)