Canonical Allele Identifier: CA69602217

Gene: RAF1 MKRN2

Linked Data

• dbSNP Id: rs984115984
• gnomAD v3: 3-12584559-G-A
• gnomAD v4: 3-12584559-G-A
• MyVariant Identifiers: chr3:g.12626058G>A (hg19) ; chr3:g.12584559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584559G>A , CM000665.2:g.12584559G>A	GRCh38
NC_000003.11:g.12626058G>A , CM000665.1:g.12626058G>A	GRCh37
NC_000003.10:g.12601058G>A	NCBI36
NG_007467.1:g.84621C>T , LRG_413:g.84621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423275.6:c.*1567C>T (RAF1)	ENSP00000401088.1:n.*1567C>T
ENST00000432427.3:c.1219C>T (RAF1)
ENST00000460610.2:n.6214C>T (RAF1)
ENST00000471449.2:n.712C>T (RAF1)
ENST00000475353.2:n.4182C>T (RAF1)
ENST00000684903.1:c.*1579C>T (RAF1)	ENSP00000508612.1:n.*1579C>T
ENST00000685348.1:c.*1613C>T (RAF1)	ENSP00000510285.1:n.*1613C>T
ENST00000685437.1:c.1803C>T (RAF1)	ENSP00000508794.1:p.Ile601=
ENST00000685653.1:c.1902C>T (RAF1)	ENSP00000509968.1:p.Ile634=
ENST00000685697.1:n.2637C>T (RAF1)
ENST00000685738.1:c.*866C>T (RAF1)	ENSP00000510156.1:n.*866C>T
ENST00000686409.1:n.5311C>T (RAF1)
ENST00000686455.1:n.4623C>T (RAF1)
ENST00000686762.1:c.*461C>T (RAF1)	ENSP00000509767.1:n.*461C>T
ENST00000687257.1:n.4356C>T (RAF1)
ENST00000687326.1:c.*3194C>T (RAF1)	ENSP00000509665.1:n.*3194C>T
ENST00000687505.1:n.2020C>T (RAF1)
ENST00000687923.1:c.1791C>T (RAF1)	ENSP00000510255.1:p.Ile597=
ENST00000688269.1:n.2498C>T (RAF1)
ENST00000688444.1:n.4019C>T (RAF1)
ENST00000688543.1:c.1803C>T (RAF1)	ENSP00000509612.1:p.Ile601=
ENST00000688625.1:c.*3271C>T (RAF1)	ENSP00000509522.1:n.*3271C>T
ENST00000688803.1:n.3330C>T (RAF1)
ENST00000689097.1:c.*1579C>T (RAF1)	ENSP00000509756.1:n.*1579C>T
ENST00000689389.1:c.1725C>T (RAF1)	ENSP00000510213.1:p.Ile575=
ENST00000689418.1:c.*3797C>T (RAF1)	ENSP00000509467.1:n.*3797C>T
ENST00000689540.1:n.4270C>T (RAF1)
ENST00000689876.1:c.*451C>T (RAF1)	ENSP00000508535.1:n.*451C>T
ENST00000689914.1:c.*836C>T (RAF1)	ENSP00000509847.1:n.*836C>T
ENST00000690397.1:c.1791C>T (RAF1)	ENSP00000508730.1:p.Ile597=
ENST00000690460.1:c.1890C>T (RAF1)	ENSP00000509106.1:p.Ile630=
ENST00000690585.1:c.628C>T (RAF1)
ENST00000690625.1:n.2938C>T (RAF1)
ENST00000691396.1:c.*1774C>T (RAF1)	ENSP00000510712.1:n.*1774C>T
ENST00000691643.1:n.2955C>T (RAF1)
ENST00000691724.1:c.*859C>T (RAF1)	ENSP00000509255.1:n.*859C>T
ENST00000691779.1:c.*1480C>T (RAF1)	ENSP00000508592.1:n.*1480C>T
ENST00000691888.1:c.776C>T (RAF1)
ENST00000691899.1:c.1902C>T (RAF1)	ENSP00000508763.1:p.Ile634=
ENST00000692069.1:n.4826C>T (RAF1)
ENST00000692093.1:c.1803C>T (RAF1)	ENSP00000509669.1:p.Ile601=
ENST00000692311.1:n.2726C>T (RAF1)
ENST00000692558.1:n.4485C>T (RAF1)
ENST00000692773.1:c.*1639C>T (RAF1)	ENSP00000509055.1:n.*1639C>T
ENST00000692830.1:c.*1647C>T (RAF1)	ENSP00000509461.1:n.*1647C>T
ENST00000693312.1:c.1677C>T (RAF1)	ENSP00000508686.1:p.Ile559=
ENST00000693664.1:c.*353C>T (RAF1)	ENSP00000509614.1:n.*353C>T
ENST00000693705.1:c.*1281C>T (RAF1)	ENSP00000510697.1:n.*1281C>T
ENST00000251849.9:c.1902C>T (RAF1) MANE Select	ENSP00000251849.4:p.Ile634=
ENST00000442415.7:c.1962C>T (RAF1)	ENSP00000401888.2:p.Ile654=
ENST00000676541.1:c.*2306G>A (MKRN2)	ENSP00000503730.1:n.*2306G>A
ENST00000677142.1:c.*2306G>A (MKRN2)	ENSP00000504455.1:n.*2306G>A
ENST00000677816.1:c.*861G>A (MKRN2)	ENSP00000502893.1:n.*861G>A
ENST00000677941.1:n.2369G>A (MKRN2)
ENST00000251849.8:c.1902C>T (RAF1)	ENSP00000251849.4:p.Ile634=
ENST00000423275.5:c.*1579C>T (RAF1)	ENSP00000401088.1:n.*1579C>T
ENST00000432427.2:c.1539C>T (RAF1)	ENSP00000398591.2:p.Ile513=
ENST00000442415.6:c.1962C>T (RAF1)	ENSP00000401888.2:p.Ile654=
ENST00000471449.1:n.591C>T (RAF1)
NM_002880.3:c.1902C>T , LRG_413t1:c.1902C>T (RAF1)	NP_002871.1:p.Ile634=
XM_005265355.1:c.1902C>T (RAF1)	XP_005265412.1:p.Ile634=
XM_005265357.1:c.1803C>T (RAF1)	XP_005265414.1:p.Ile601=
XM_005265358.3:c.1659C>T (RAF1)	XP_005265415.1:p.Ile553=
XM_005265359.3:c.1560C>T (RAF1)	XP_005265416.1:p.Ile520=
XM_011533974.1:c.1902C>T (RAF1)	XP_011532276.1:p.Ile634=
XM_011533975.1:c.1659C>T (RAF1)	XP_011532277.1:p.Ile553=
NM_001354689.1:c.1962C>T (RAF1)	NP_001341618.1:p.Ile654=
NM_001354690.1:c.1902C>T (RAF1)	NP_001341619.1:p.Ile634=
NM_001354691.1:c.1659C>T (RAF1)	NP_001341620.1:p.Ile553=
NM_001354692.1:c.1659C>T (RAF1)	NP_001341621.1:p.Ile553=
NM_001354693.1:c.1803C>T (RAF1)	NP_001341622.1:p.Ile601=
NM_001354694.1:c.1719C>T (RAF1)	NP_001341623.1:p.Ile573=
NM_001354695.1:c.1560C>T (RAF1)	NP_001341624.1:p.Ile520=
NR_148940.1:n.2430C>T (RAF1)
NR_148941.1:n.2376C>T (RAF1)
NR_148942.1:n.2315C>T (RAF1)
XM_011533974.3:c.1902C>T (RAF1)	XP_011532276.1:p.Ile634=
XM_017006966.1:c.1803C>T (RAF1)	XP_016862455.1:p.Ile601=
NM_001354689.3:c.1962C>T (RAF1)	NP_001341618.1:p.Ile654=
NM_001354690.2:c.1902C>T (RAF1)	NP_001341619.1:p.Ile634=
NM_001354691.2:c.1659C>T (RAF1)	NP_001341620.1:p.Ile553=
NM_001354692.2:c.1659C>T (RAF1)	NP_001341621.1:p.Ile553=
NM_001354693.2:c.1803C>T (RAF1)	NP_001341622.1:p.Ile601=
NM_001354694.2:c.1719C>T (RAF1)	NP_001341623.1:p.Ile573=
NM_001354695.2:c.1560C>T (RAF1)	NP_001341624.1:p.Ile520=
NR_148940.2:n.2346C>T (RAF1)
NR_148941.2:n.2292C>T (RAF1)
NR_148942.2:n.2231C>T (RAF1)
NM_001354690.3:c.1902C>T (RAF1)	NP_001341619.1:p.Ile634=
NM_001354691.3:c.1659C>T (RAF1)	NP_001341620.1:p.Ile553=
NM_001354692.3:c.1659C>T (RAF1)	NP_001341621.1:p.Ile553=
NM_001354693.3:c.1803C>T (RAF1)	NP_001341622.1:p.Ile601=
NM_001354694.3:c.1719C>T (RAF1)	NP_001341623.1:p.Ile573=
NM_001354695.3:c.1560C>T (RAF1)	NP_001341624.1:p.Ile520=
NM_002880.4:c.1902C>T (RAF1) MANE Select	NP_002871.1:p.Ile634=
NR_148940.3:n.2346C>T (RAF1)
NR_148941.3:n.2292C>T (RAF1)
NR_148942.3:n.2231C>T (RAF1)