Canonical Allele Identifier: CA351496231

Gene: RAF1 MKRN2

Linked Data

• gnomAD v4: 3-12584647-G-C
• MyVariant Identifiers: chr3:g.12626146G>C (hg19) ; chr3:g.12584647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584647G>C , CM000665.2:g.12584647G>C	GRCh38
NC_000003.11:g.12626146G>C , CM000665.1:g.12626146G>C	GRCh37
NC_000003.10:g.12601146G>C	NCBI36
NG_007467.1:g.84533C>G , LRG_413:g.84533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1479C>G (RAF1)	ENSP00000401088.1:n.*1479C>G
ENST00000432427.3:c.1131C>G (RAF1)
ENST00000460610.2:n.6126C>G (RAF1)
ENST00000471449.2:n.624C>G (RAF1)
ENST00000475353.2:n.4094C>G (RAF1)
ENST00000684903.1:c.*1491C>G (RAF1)	ENSP00000508612.1:n.*1491C>G
ENST00000685348.1:c.*1525C>G (RAF1)	ENSP00000510285.1:n.*1525C>G
ENST00000685437.1:c.1715C>G (RAF1)	ENSP00000508794.1:p.Ser572Cys
ENST00000685653.1:c.1814C>G (RAF1)	ENSP00000509968.1:p.Ser605Cys
ENST00000685697.1:n.2549C>G (RAF1)
ENST00000685738.1:c.*778C>G (RAF1)	ENSP00000510156.1:n.*778C>G
ENST00000686409.1:n.5223C>G (RAF1)
ENST00000686455.1:n.4535C>G (RAF1)
ENST00000686762.1:c.*373C>G (RAF1)	ENSP00000509767.1:n.*373C>G
ENST00000687257.1:n.4268C>G (RAF1)
ENST00000687326.1:c.*3106C>G (RAF1)	ENSP00000509665.1:n.*3106C>G
ENST00000687505.1:n.1932C>G (RAF1)
ENST00000687923.1:c.1703C>G (RAF1)	ENSP00000510255.1:p.Ser568Cys
ENST00000688269.1:n.2410C>G (RAF1)
ENST00000688444.1:n.3931C>G (RAF1)
ENST00000688543.1:c.1715C>G (RAF1)	ENSP00000509612.1:p.Ser572Cys
ENST00000688625.1:c.*3183C>G (RAF1)	ENSP00000509522.1:n.*3183C>G
ENST00000688803.1:n.3242C>G (RAF1)
ENST00000689097.1:c.*1491C>G (RAF1)	ENSP00000509756.1:n.*1491C>G
ENST00000689389.1:c.1637C>G (RAF1)	ENSP00000510213.1:p.Ser546Cys
ENST00000689418.1:c.*3709C>G (RAF1)	ENSP00000509467.1:n.*3709C>G
ENST00000689540.1:n.4182C>G (RAF1)
ENST00000689876.1:c.*363C>G (RAF1)	ENSP00000508535.1:n.*363C>G
ENST00000689914.1:c.*748C>G (RAF1)	ENSP00000509847.1:n.*748C>G
ENST00000690397.1:c.1703C>G (RAF1)	ENSP00000508730.1:p.Ser568Cys
ENST00000690460.1:c.1802C>G (RAF1)	ENSP00000509106.1:p.Ser601Cys
ENST00000690585.1:c.540C>G (RAF1)
ENST00000690625.1:n.2850C>G (RAF1)
ENST00000691396.1:c.*1686C>G (RAF1)	ENSP00000510712.1:n.*1686C>G
ENST00000691643.1:n.2867C>G (RAF1)
ENST00000691724.1:c.*771C>G (RAF1)	ENSP00000509255.1:n.*771C>G
ENST00000691779.1:c.*1392C>G (RAF1)	ENSP00000508592.1:n.*1392C>G
ENST00000691888.1:c.688C>G (RAF1)
ENST00000691899.1:c.1814C>G (RAF1)	ENSP00000508763.1:p.Ser605Cys
ENST00000692069.1:n.4738C>G (RAF1)
ENST00000692093.1:c.1715C>G (RAF1)	ENSP00000509669.1:p.Ser572Cys
ENST00000692311.1:n.2638C>G (RAF1)
ENST00000692558.1:n.4397C>G (RAF1)
ENST00000692773.1:c.*1551C>G (RAF1)	ENSP00000509055.1:n.*1551C>G
ENST00000692830.1:c.*1559C>G (RAF1)	ENSP00000509461.1:n.*1559C>G
ENST00000693312.1:c.1589C>G (RAF1)	ENSP00000508686.1:p.Ser530Cys
ENST00000693664.1:c.*265C>G (RAF1)	ENSP00000509614.1:n.*265C>G
ENST00000693705.1:c.*1193C>G (RAF1)	ENSP00000510697.1:n.*1193C>G
ENST00000251849.9:c.1814C>G (RAF1) MANE Select	ENSP00000251849.4:p.Ser605Cys
ENST00000442415.7:c.1874C>G (RAF1)	ENSP00000401888.2:p.Ser625Cys
ENST00000676541.1:c.*2394G>C (MKRN2)	ENSP00000503730.1:n.*2394G>C
ENST00000677142.1:c.*2394G>C (MKRN2)	ENSP00000504455.1:n.*2394G>C
ENST00000677816.1:c.*949G>C (MKRN2)	ENSP00000502893.1:n.*949G>C
ENST00000677941.1:n.2457G>C (MKRN2)
ENST00000251849.8:c.1814C>G (RAF1)	ENSP00000251849.4:p.Ser605Cys
ENST00000423275.5:c.*1491C>G (RAF1)	ENSP00000401088.1:n.*1491C>G
ENST00000432427.2:c.1451C>G (RAF1)	ENSP00000398591.2:p.Ser484Cys
ENST00000442415.6:c.1874C>G (RAF1)	ENSP00000401888.2:p.Ser625Cys
ENST00000471449.1:n.503C>G (RAF1)
NM_002880.3:c.1814C>G , LRG_413t1:c.1814C>G (RAF1)	NP_002871.1:p.Ser605Cys
XM_005265355.1:c.1814C>G (RAF1)	XP_005265412.1:p.Ser605Cys
XM_005265357.1:c.1715C>G (RAF1)	XP_005265414.1:p.Ser572Cys
XM_005265358.3:c.1571C>G (RAF1)	XP_005265415.1:p.Ser524Cys
XM_005265359.3:c.1472C>G (RAF1)	XP_005265416.1:p.Ser491Cys
XM_011533974.1:c.1814C>G (RAF1)	XP_011532276.1:p.Ser605Cys
XM_011533975.1:c.1571C>G (RAF1)	XP_011532277.1:p.Ser524Cys
NM_001354689.1:c.1874C>G (RAF1)	NP_001341618.1:p.Ser625Cys
NM_001354690.1:c.1814C>G (RAF1)	NP_001341619.1:p.Ser605Cys
NM_001354691.1:c.1571C>G (RAF1)	NP_001341620.1:p.Ser524Cys
NM_001354692.1:c.1571C>G (RAF1)	NP_001341621.1:p.Ser524Cys
NM_001354693.1:c.1715C>G (RAF1)	NP_001341622.1:p.Ser572Cys
NM_001354694.1:c.1631C>G (RAF1)	NP_001341623.1:p.Ser544Cys
NM_001354695.1:c.1472C>G (RAF1)	NP_001341624.1:p.Ser491Cys
NR_148940.1:n.2342C>G (RAF1)
NR_148941.1:n.2288C>G (RAF1)
NR_148942.1:n.2227C>G (RAF1)
XM_011533974.3:c.1814C>G (RAF1)	XP_011532276.1:p.Ser605Cys
XM_017006966.1:c.1715C>G (RAF1)	XP_016862455.1:p.Ser572Cys
NM_001354689.3:c.1874C>G (RAF1)	NP_001341618.1:p.Ser625Cys
NM_001354690.2:c.1814C>G (RAF1)	NP_001341619.1:p.Ser605Cys
NM_001354691.2:c.1571C>G (RAF1)	NP_001341620.1:p.Ser524Cys
NM_001354692.2:c.1571C>G (RAF1)	NP_001341621.1:p.Ser524Cys
NM_001354693.2:c.1715C>G (RAF1)	NP_001341622.1:p.Ser572Cys
NM_001354694.2:c.1631C>G (RAF1)	NP_001341623.1:p.Ser544Cys
NM_001354695.2:c.1472C>G (RAF1)	NP_001341624.1:p.Ser491Cys
NR_148940.2:n.2258C>G (RAF1)
NR_148941.2:n.2204C>G (RAF1)
NR_148942.2:n.2143C>G (RAF1)
NM_001354690.3:c.1814C>G (RAF1)	NP_001341619.1:p.Ser605Cys
NM_001354691.3:c.1571C>G (RAF1)	NP_001341620.1:p.Ser524Cys
NM_001354692.3:c.1571C>G (RAF1)	NP_001341621.1:p.Ser524Cys
NM_001354693.3:c.1715C>G (RAF1)	NP_001341622.1:p.Ser572Cys
NM_001354694.3:c.1631C>G (RAF1)	NP_001341623.1:p.Ser544Cys
NM_001354695.3:c.1472C>G (RAF1)	NP_001341624.1:p.Ser491Cys
NM_002880.4:c.1814C>G (RAF1) MANE Select	NP_002871.1:p.Ser605Cys
NR_148940.3:n.2258C>G (RAF1)
NR_148941.3:n.2204C>G (RAF1)
NR_148942.3:n.2143C>G (RAF1)