Canonical Allele Identifier: CA351496656

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 978568
• ClinVar RCV Id: RCV001257283
• dbSNP Id: rs2058275495
• MyVariant Identifiers: chr3:g.12626393C>G (hg19) ; chr3:g.12584894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584894C>G , CM000665.2:g.12584894C>G	GRCh38
NC_000003.11:g.12626393C>G , CM000665.1:g.12626393C>G	GRCh37
NC_000003.10:g.12601393C>G	NCBI36
NG_007467.1:g.84286G>C , LRG_413:g.84286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1421G>C (RAF1)	ENSP00000401088.1:n.*1421G>C
ENST00000432427.3:c.1073G>C (RAF1)
ENST00000460610.2:n.6068G>C (RAF1)
ENST00000471449.2:n.566G>C (RAF1)
ENST00000475353.2:n.4036G>C (RAF1)
ENST00000684903.1:c.*1433G>C (RAF1)	ENSP00000508612.1:n.*1433G>C
ENST00000685348.1:c.*1467G>C (RAF1)	ENSP00000510285.1:n.*1467G>C
ENST00000685437.1:c.1657G>C (RAF1)	ENSP00000508794.1:p.Ala553Pro
ENST00000685653.1:c.1756G>C (RAF1)	ENSP00000509968.1:p.Ala586Pro
ENST00000685697.1:n.2491G>C (RAF1)
ENST00000685738.1:c.*720G>C (RAF1)	ENSP00000510156.1:n.*720G>C
ENST00000686409.1:n.5165G>C (RAF1)
ENST00000686455.1:n.4477G>C (RAF1)
ENST00000686762.1:c.*315G>C (RAF1)	ENSP00000509767.1:n.*315G>C
ENST00000687257.1:n.4210G>C (RAF1)
ENST00000687326.1:c.*3048G>C (RAF1)	ENSP00000509665.1:n.*3048G>C
ENST00000687505.1:n.1874G>C (RAF1)
ENST00000687923.1:c.1645G>C (RAF1)	ENSP00000510255.1:p.Ala549Pro
ENST00000688269.1:n.2352G>C (RAF1)
ENST00000688444.1:n.3873G>C (RAF1)
ENST00000688543.1:c.1657G>C (RAF1)	ENSP00000509612.1:p.Ala553Pro
ENST00000688625.1:c.*3125G>C (RAF1)	ENSP00000509522.1:n.*3125G>C
ENST00000688803.1:n.3184G>C (RAF1)
ENST00000688914.1:n.1169G>C (RAF1)
ENST00000689097.1:c.*1433G>C (RAF1)	ENSP00000509756.1:n.*1433G>C
ENST00000689389.1:c.1579G>C (RAF1)	ENSP00000510213.1:p.Ala527Pro
ENST00000689418.1:c.*3651G>C (RAF1)	ENSP00000509467.1:n.*3651G>C
ENST00000689540.1:n.4124G>C (RAF1)
ENST00000689876.1:c.*305G>C (RAF1)	ENSP00000508535.1:n.*305G>C
ENST00000689914.1:c.*690G>C (RAF1)	ENSP00000509847.1:n.*690G>C
ENST00000690397.1:c.1645G>C (RAF1)	ENSP00000508730.1:p.Ala549Pro
ENST00000690460.1:c.1744G>C (RAF1)	ENSP00000509106.1:p.Ala582Pro
ENST00000690585.1:c.482G>C (RAF1)
ENST00000690625.1:n.2792G>C (RAF1)
ENST00000691396.1:c.*1628G>C (RAF1)	ENSP00000510712.1:n.*1628G>C
ENST00000691643.1:n.2809G>C (RAF1)
ENST00000691724.1:c.*713G>C (RAF1)	ENSP00000509255.1:n.*713G>C
ENST00000691779.1:c.*1334G>C (RAF1)	ENSP00000508592.1:n.*1334G>C
ENST00000691888.1:c.630G>C (RAF1)
ENST00000691899.1:c.1756G>C (RAF1)	ENSP00000508763.1:p.Ala586Pro
ENST00000692069.1:n.4680G>C (RAF1)
ENST00000692093.1:c.1657G>C (RAF1)	ENSP00000509669.1:p.Ala553Pro
ENST00000692311.1:n.2580G>C (RAF1)
ENST00000692558.1:n.4339G>C (RAF1)
ENST00000692773.1:c.*1493G>C (RAF1)	ENSP00000509055.1:n.*1493G>C
ENST00000692830.1:c.*1501G>C (RAF1)	ENSP00000509461.1:n.*1501G>C
ENST00000693312.1:c.1531G>C (RAF1)	ENSP00000508686.1:p.Ala511Pro
ENST00000693664.1:c.*207G>C (RAF1)	ENSP00000509614.1:n.*207G>C
ENST00000693705.1:c.*1135G>C (RAF1)	ENSP00000510697.1:n.*1135G>C
ENST00000251849.9:c.1756G>C (RAF1) MANE Select	ENSP00000251849.4:p.Ala586Pro
ENST00000442415.7:c.1816G>C (RAF1)	ENSP00000401888.2:p.Ala606Pro
ENST00000676541.1:c.*2641C>G (MKRN2)	ENSP00000503730.1:n.*2641C>G
ENST00000677142.1:c.*2641C>G (MKRN2)	ENSP00000504455.1:n.*2641C>G
ENST00000677816.1:c.*1196C>G (MKRN2)	ENSP00000502893.1:n.*1196C>G
ENST00000677941.1:n.2704C>G (MKRN2)
ENST00000251849.8:c.1756G>C (RAF1)	ENSP00000251849.4:p.Ala586Pro
ENST00000423275.5:c.*1433G>C (RAF1)	ENSP00000401088.1:n.*1433G>C
ENST00000432427.2:c.1393G>C (RAF1)	ENSP00000398591.2:p.Ala465Pro
ENST00000442415.6:c.1816G>C (RAF1)	ENSP00000401888.2:p.Ala606Pro
ENST00000471449.1:n.445G>C (RAF1)
NM_002880.3:c.1756G>C , LRG_413t1:c.1756G>C (RAF1)	NP_002871.1:p.Ala586Pro
XM_005265355.1:c.1756G>C (RAF1)	XP_005265412.1:p.Ala586Pro
XM_005265357.1:c.1657G>C (RAF1)	XP_005265414.1:p.Ala553Pro
XM_005265358.3:c.1513G>C (RAF1)	XP_005265415.1:p.Ala505Pro
XM_005265359.3:c.1414G>C (RAF1)	XP_005265416.1:p.Ala472Pro
XM_011533974.1:c.1756G>C (RAF1)	XP_011532276.1:p.Ala586Pro
XM_011533975.1:c.1513G>C (RAF1)	XP_011532277.1:p.Ala505Pro
NM_001354689.1:c.1816G>C (RAF1)	NP_001341618.1:p.Ala606Pro
NM_001354690.1:c.1756G>C (RAF1)	NP_001341619.1:p.Ala586Pro
NM_001354691.1:c.1513G>C (RAF1)	NP_001341620.1:p.Ala505Pro
NM_001354692.1:c.1513G>C (RAF1)	NP_001341621.1:p.Ala505Pro
NM_001354693.1:c.1657G>C (RAF1)	NP_001341622.1:p.Ala553Pro
NM_001354694.1:c.1573G>C (RAF1)	NP_001341623.1:p.Ala525Pro
NM_001354695.1:c.1414G>C (RAF1)	NP_001341624.1:p.Ala472Pro
NR_148940.1:n.2284G>C (RAF1)
NR_148941.1:n.2230G>C (RAF1)
NR_148942.1:n.2169G>C (RAF1)
XM_011533974.3:c.1756G>C (RAF1)	XP_011532276.1:p.Ala586Pro
XM_017006966.1:c.1657G>C (RAF1)	XP_016862455.1:p.Ala553Pro
NM_001354689.3:c.1816G>C (RAF1)	NP_001341618.1:p.Ala606Pro
NM_001354690.2:c.1756G>C (RAF1)	NP_001341619.1:p.Ala586Pro
NM_001354691.2:c.1513G>C (RAF1)	NP_001341620.1:p.Ala505Pro
NM_001354692.2:c.1513G>C (RAF1)	NP_001341621.1:p.Ala505Pro
NM_001354693.2:c.1657G>C (RAF1)	NP_001341622.1:p.Ala553Pro
NM_001354694.2:c.1573G>C (RAF1)	NP_001341623.1:p.Ala525Pro
NM_001354695.2:c.1414G>C (RAF1)	NP_001341624.1:p.Ala472Pro
NR_148940.2:n.2200G>C (RAF1)
NR_148941.2:n.2146G>C (RAF1)
NR_148942.2:n.2085G>C (RAF1)
NM_001354690.3:c.1756G>C (RAF1)	NP_001341619.1:p.Ala586Pro
NM_001354691.3:c.1513G>C (RAF1)	NP_001341620.1:p.Ala505Pro
NM_001354692.3:c.1513G>C (RAF1)	NP_001341621.1:p.Ala505Pro
NM_001354693.3:c.1657G>C (RAF1)	NP_001341622.1:p.Ala553Pro
NM_001354694.3:c.1573G>C (RAF1)	NP_001341623.1:p.Ala525Pro
NM_001354695.3:c.1414G>C (RAF1)	NP_001341624.1:p.Ala472Pro
NM_002880.4:c.1756G>C (RAF1) MANE Select	NP_002871.1:p.Ala586Pro
NR_148940.3:n.2200G>C (RAF1)
NR_148941.3:n.2146G>C (RAF1)
NR_148942.3:n.2085G>C (RAF1)