Canonical Allele Identifier: CA432272638

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 1655234
• ClinVar RCV Id: RCV002156662
• dbSNP Id: rs2125316071
• MyVariant Identifiers: chr3:g.12626055A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584556A>G , CM000665.2:g.12584556A>G	GRCh38
NC_000003.11:g.12626055A>G , CM000665.1:g.12626055A>G	GRCh37
NC_000003.10:g.12601055A>G	NCBI36
NG_007467.1:g.84624T>C , LRG_413:g.84624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1570T>C (RAF1)	ENSP00000401088.1:n.*1570T>C
ENST00000432427.3:c.1222T>C (RAF1)
ENST00000460610.2:n.6217T>C (RAF1)
ENST00000471449.2:n.715T>C (RAF1)
ENST00000475353.2:n.4185T>C (RAF1)
ENST00000684903.1:c.*1582T>C (RAF1)	ENSP00000508612.1:n.*1582T>C
ENST00000685348.1:c.*1616T>C (RAF1)	ENSP00000510285.1:n.*1616T>C
ENST00000685437.1:c.1806T>C (RAF1)	ENSP00000508794.1:p.Asn602=
ENST00000685653.1:c.1905T>C (RAF1)	ENSP00000509968.1:p.Asn635=
ENST00000685697.1:n.2640T>C (RAF1)
ENST00000685738.1:c.*869T>C (RAF1)	ENSP00000510156.1:n.*869T>C
ENST00000686409.1:n.5314T>C (RAF1)
ENST00000686455.1:n.4626T>C (RAF1)
ENST00000686762.1:c.*464T>C (RAF1)	ENSP00000509767.1:n.*464T>C
ENST00000687257.1:n.4359T>C (RAF1)
ENST00000687326.1:c.*3197T>C (RAF1)	ENSP00000509665.1:n.*3197T>C
ENST00000687505.1:n.2023T>C (RAF1)
ENST00000687923.1:c.1794T>C (RAF1)	ENSP00000510255.1:p.Asn598=
ENST00000688269.1:n.2501T>C (RAF1)
ENST00000688444.1:n.4022T>C (RAF1)
ENST00000688543.1:c.1806T>C (RAF1)	ENSP00000509612.1:p.Asn602=
ENST00000688625.1:c.*3274T>C (RAF1)	ENSP00000509522.1:n.*3274T>C
ENST00000688803.1:n.3333T>C (RAF1)
ENST00000689097.1:c.*1582T>C (RAF1)	ENSP00000509756.1:n.*1582T>C
ENST00000689389.1:c.1728T>C (RAF1)	ENSP00000510213.1:p.Asn576=
ENST00000689418.1:c.*3800T>C (RAF1)	ENSP00000509467.1:n.*3800T>C
ENST00000689540.1:n.4273T>C (RAF1)
ENST00000689876.1:c.*454T>C (RAF1)	ENSP00000508535.1:n.*454T>C
ENST00000689914.1:c.*839T>C (RAF1)	ENSP00000509847.1:n.*839T>C
ENST00000690397.1:c.1794T>C (RAF1)	ENSP00000508730.1:p.Asn598=
ENST00000690460.1:c.1893T>C (RAF1)	ENSP00000509106.1:p.Asn631=
ENST00000690585.1:c.631T>C (RAF1)
ENST00000690625.1:n.2941T>C (RAF1)
ENST00000691396.1:c.*1777T>C (RAF1)	ENSP00000510712.1:n.*1777T>C
ENST00000691643.1:n.2958T>C (RAF1)
ENST00000691724.1:c.*862T>C (RAF1)	ENSP00000509255.1:n.*862T>C
ENST00000691779.1:c.*1483T>C (RAF1)	ENSP00000508592.1:n.*1483T>C
ENST00000691888.1:c.779T>C (RAF1)
ENST00000691899.1:c.1905T>C (RAF1)	ENSP00000508763.1:p.Asn635=
ENST00000692069.1:n.4829T>C (RAF1)
ENST00000692093.1:c.1806T>C (RAF1)	ENSP00000509669.1:p.Asn602=
ENST00000692311.1:n.2729T>C (RAF1)
ENST00000692558.1:n.4488T>C (RAF1)
ENST00000692773.1:c.*1642T>C (RAF1)	ENSP00000509055.1:n.*1642T>C
ENST00000692830.1:c.*1650T>C (RAF1)	ENSP00000509461.1:n.*1650T>C
ENST00000693312.1:c.1680T>C (RAF1)	ENSP00000508686.1:p.Asn560=
ENST00000693664.1:c.*356T>C (RAF1)	ENSP00000509614.1:n.*356T>C
ENST00000693705.1:c.*1284T>C (RAF1)	ENSP00000510697.1:n.*1284T>C
ENST00000251849.9:c.1905T>C (RAF1) MANE Select	ENSP00000251849.4:p.Asn635=
ENST00000442415.7:c.1965T>C (RAF1)	ENSP00000401888.2:p.Asn655=
ENST00000676541.1:c.*2303A>G (MKRN2)	ENSP00000503730.1:n.*2303A>G
ENST00000677142.1:c.*2303A>G (MKRN2)	ENSP00000504455.1:n.*2303A>G
ENST00000677816.1:c.*858A>G (MKRN2)	ENSP00000502893.1:n.*858A>G
ENST00000677941.1:n.2366A>G (MKRN2)
ENST00000251849.8:c.1905T>C (RAF1)	ENSP00000251849.4:p.Asn635=
ENST00000423275.5:c.*1582T>C (RAF1)	ENSP00000401088.1:n.*1582T>C
ENST00000432427.2:c.1542T>C (RAF1)	ENSP00000398591.2:p.Asn514=
ENST00000442415.6:c.1965T>C (RAF1)	ENSP00000401888.2:p.Asn655=
ENST00000471449.1:n.594T>C (RAF1)
NM_002880.3:c.1905T>C , LRG_413t1:c.1905T>C (RAF1)	NP_002871.1:p.Asn635=
XM_005265355.1:c.1905T>C (RAF1)	XP_005265412.1:p.Asn635=
XM_005265357.1:c.1806T>C (RAF1)	XP_005265414.1:p.Asn602=
XM_005265358.3:c.1662T>C (RAF1)	XP_005265415.1:p.Asn554=
XM_005265359.3:c.1563T>C (RAF1)	XP_005265416.1:p.Asn521=
XM_011533974.1:c.1905T>C (RAF1)	XP_011532276.1:p.Asn635=
XM_011533975.1:c.1662T>C (RAF1)	XP_011532277.1:p.Asn554=
NM_001354689.1:c.1965T>C (RAF1)	NP_001341618.1:p.Asn655=
NM_001354690.1:c.1905T>C (RAF1)	NP_001341619.1:p.Asn635=
NM_001354691.1:c.1662T>C (RAF1)	NP_001341620.1:p.Asn554=
NM_001354692.1:c.1662T>C (RAF1)	NP_001341621.1:p.Asn554=
NM_001354693.1:c.1806T>C (RAF1)	NP_001341622.1:p.Asn602=
NM_001354694.1:c.1722T>C (RAF1)	NP_001341623.1:p.Asn574=
NM_001354695.1:c.1563T>C (RAF1)	NP_001341624.1:p.Asn521=
NR_148940.1:n.2433T>C (RAF1)
NR_148941.1:n.2379T>C (RAF1)
NR_148942.1:n.2318T>C (RAF1)
XM_011533974.3:c.1905T>C (RAF1)	XP_011532276.1:p.Asn635=
XM_017006966.1:c.1806T>C (RAF1)	XP_016862455.1:p.Asn602=
NM_001354689.3:c.1965T>C (RAF1)	NP_001341618.1:p.Asn655=
NM_001354690.2:c.1905T>C (RAF1)	NP_001341619.1:p.Asn635=
NM_001354691.2:c.1662T>C (RAF1)	NP_001341620.1:p.Asn554=
NM_001354692.2:c.1662T>C (RAF1)	NP_001341621.1:p.Asn554=
NM_001354693.2:c.1806T>C (RAF1)	NP_001341622.1:p.Asn602=
NM_001354694.2:c.1722T>C (RAF1)	NP_001341623.1:p.Asn574=
NM_001354695.2:c.1563T>C (RAF1)	NP_001341624.1:p.Asn521=
NR_148940.2:n.2349T>C (RAF1)
NR_148941.2:n.2295T>C (RAF1)
NR_148942.2:n.2234T>C (RAF1)
NM_001354690.3:c.1905T>C (RAF1)	NP_001341619.1:p.Asn635=
NM_001354691.3:c.1662T>C (RAF1)	NP_001341620.1:p.Asn554=
NM_001354692.3:c.1662T>C (RAF1)	NP_001341621.1:p.Asn554=
NM_001354693.3:c.1806T>C (RAF1)	NP_001341622.1:p.Asn602=
NM_001354694.3:c.1722T>C (RAF1)	NP_001341623.1:p.Asn574=
NM_001354695.3:c.1563T>C (RAF1)	NP_001341624.1:p.Asn521=
NM_002880.4:c.1905T>C (RAF1) MANE Select	NP_002871.1:p.Asn635=
NR_148940.3:n.2349T>C (RAF1)
NR_148941.3:n.2295T>C (RAF1)
NR_148942.3:n.2234T>C (RAF1)