Canonical Allele Identifier: CA351495498

Gene: RAF1 MKRN2

Linked Data

• ClinVar Variation Id: 992259
• ClinVar RCV Id: RCV001280663 ; RCV001304412 ; RCV001773587
• dbSNP Id: rs1183812590
• gnomAD v2: 3-12626039-T-C
• gnomAD v3: 3-12584540-T-C
• gnomAD v4: 3-12584540-T-C
• MyVariant Identifiers: chr3:g.12626039T>C (hg19) ; chr3:g.12584540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12584540T>C , CM000665.2:g.12584540T>C	GRCh38
NC_000003.11:g.12626039T>C , CM000665.1:g.12626039T>C	GRCh37
NC_000003.10:g.12601039T>C	NCBI36
NG_007467.1:g.84640A>G , LRG_413:g.84640A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000423275.6:c.*1586A>G (RAF1)	ENSP00000401088.1:n.*1586A>G
ENST00000432427.3:c.1238A>G (RAF1)
ENST00000460610.2:n.6233A>G (RAF1)
ENST00000471449.2:n.731A>G (RAF1)
ENST00000475353.2:n.4201A>G (RAF1)
ENST00000684903.1:c.*1598A>G (RAF1)	ENSP00000508612.1:n.*1598A>G
ENST00000685348.1:c.*1632A>G (RAF1)	ENSP00000510285.1:n.*1632A>G
ENST00000685437.1:c.1822A>G (RAF1)	ENSP00000508794.1:p.Thr608Ala
ENST00000685653.1:c.1921A>G (RAF1)	ENSP00000509968.1:p.Thr641Ala
ENST00000685697.1:n.2656A>G (RAF1)
ENST00000685738.1:c.*885A>G (RAF1)	ENSP00000510156.1:n.*885A>G
ENST00000686409.1:n.5330A>G (RAF1)
ENST00000686455.1:n.4642A>G (RAF1)
ENST00000686762.1:c.*480A>G (RAF1)	ENSP00000509767.1:n.*480A>G
ENST00000687257.1:n.4375A>G (RAF1)
ENST00000687326.1:c.*3213A>G (RAF1)	ENSP00000509665.1:n.*3213A>G
ENST00000687505.1:n.2039A>G (RAF1)
ENST00000687923.1:c.1810A>G (RAF1)	ENSP00000510255.1:p.Thr604Ala
ENST00000688269.1:n.2517A>G (RAF1)
ENST00000688444.1:n.4038A>G (RAF1)
ENST00000688543.1:c.1822A>G (RAF1)	ENSP00000509612.1:p.Thr608Ala
ENST00000688625.1:c.*3290A>G (RAF1)	ENSP00000509522.1:n.*3290A>G
ENST00000688803.1:n.3349A>G (RAF1)
ENST00000689097.1:c.*1598A>G (RAF1)	ENSP00000509756.1:n.*1598A>G
ENST00000689389.1:c.1744A>G (RAF1)	ENSP00000510213.1:p.Thr582Ala
ENST00000689418.1:c.*3816A>G (RAF1)	ENSP00000509467.1:n.*3816A>G
ENST00000689540.1:n.4289A>G (RAF1)
ENST00000689876.1:c.*470A>G (RAF1)	ENSP00000508535.1:n.*470A>G
ENST00000689914.1:c.*855A>G (RAF1)	ENSP00000509847.1:n.*855A>G
ENST00000690397.1:c.1810A>G (RAF1)	ENSP00000508730.1:p.Thr604Ala
ENST00000690460.1:c.1909A>G (RAF1)	ENSP00000509106.1:p.Thr637Ala
ENST00000690585.1:c.647A>G (RAF1)
ENST00000690625.1:n.2957A>G (RAF1)
ENST00000691396.1:c.*1793A>G (RAF1)	ENSP00000510712.1:n.*1793A>G
ENST00000691643.1:n.2974A>G (RAF1)
ENST00000691724.1:c.*878A>G (RAF1)	ENSP00000509255.1:n.*878A>G
ENST00000691779.1:c.*1499A>G (RAF1)	ENSP00000508592.1:n.*1499A>G
ENST00000691888.1:c.795A>G (RAF1)
ENST00000691899.1:c.1921A>G (RAF1)	ENSP00000508763.1:p.Thr641Ala
ENST00000692069.1:n.4845A>G (RAF1)
ENST00000692093.1:c.1822A>G (RAF1)	ENSP00000509669.1:p.Thr608Ala
ENST00000692311.1:n.2745A>G (RAF1)
ENST00000692558.1:n.4504A>G (RAF1)
ENST00000692773.1:c.*1658A>G (RAF1)	ENSP00000509055.1:n.*1658A>G
ENST00000692830.1:c.*1666A>G (RAF1)	ENSP00000509461.1:n.*1666A>G
ENST00000693312.1:c.1696A>G (RAF1)	ENSP00000508686.1:p.Thr566Ala
ENST00000693664.1:c.*372A>G (RAF1)	ENSP00000509614.1:n.*372A>G
ENST00000693705.1:c.*1300A>G (RAF1)	ENSP00000510697.1:n.*1300A>G
ENST00000251849.9:c.1921A>G (RAF1) MANE Select	ENSP00000251849.4:p.Thr641Ala
ENST00000442415.7:c.1981A>G (RAF1)	ENSP00000401888.2:p.Thr661Ala
ENST00000676541.1:c.*2287T>C (MKRN2)	ENSP00000503730.1:n.*2287T>C
ENST00000677142.1:c.*2287T>C (MKRN2)	ENSP00000504455.1:n.*2287T>C
ENST00000677816.1:c.*842T>C (MKRN2)	ENSP00000502893.1:n.*842T>C
ENST00000677941.1:n.2350T>C (MKRN2)
ENST00000251849.8:c.1921A>G (RAF1)	ENSP00000251849.4:p.Thr641Ala
ENST00000423275.5:c.*1598A>G (RAF1)	ENSP00000401088.1:n.*1598A>G
ENST00000432427.2:c.1558A>G (RAF1)	ENSP00000398591.2:p.Thr520Ala
ENST00000442415.6:c.1981A>G (RAF1)	ENSP00000401888.2:p.Thr661Ala
ENST00000471449.1:n.610A>G (RAF1)
NM_002880.3:c.1921A>G , LRG_413t1:c.1921A>G (RAF1)	NP_002871.1:p.Thr641Ala
XM_005265355.1:c.1921A>G (RAF1)	XP_005265412.1:p.Thr641Ala
XM_005265357.1:c.1822A>G (RAF1)	XP_005265414.1:p.Thr608Ala
XM_005265358.3:c.1678A>G (RAF1)	XP_005265415.1:p.Thr560Ala
XM_005265359.3:c.1579A>G (RAF1)	XP_005265416.1:p.Thr527Ala
XM_011533974.1:c.1921A>G (RAF1)	XP_011532276.1:p.Thr641Ala
XM_011533975.1:c.1678A>G (RAF1)	XP_011532277.1:p.Thr560Ala
NM_001354689.1:c.1981A>G (RAF1)	NP_001341618.1:p.Thr661Ala
NM_001354690.1:c.1921A>G (RAF1)	NP_001341619.1:p.Thr641Ala
NM_001354691.1:c.1678A>G (RAF1)	NP_001341620.1:p.Thr560Ala
NM_001354692.1:c.1678A>G (RAF1)	NP_001341621.1:p.Thr560Ala
NM_001354693.1:c.1822A>G (RAF1)	NP_001341622.1:p.Thr608Ala
NM_001354694.1:c.1738A>G (RAF1)	NP_001341623.1:p.Thr580Ala
NM_001354695.1:c.1579A>G (RAF1)	NP_001341624.1:p.Thr527Ala
NR_148940.1:n.2449A>G (RAF1)
NR_148941.1:n.2395A>G (RAF1)
NR_148942.1:n.2334A>G (RAF1)
XM_011533974.3:c.1921A>G (RAF1)	XP_011532276.1:p.Thr641Ala
XM_017006966.1:c.1822A>G (RAF1)	XP_016862455.1:p.Thr608Ala
NM_001354689.3:c.1981A>G (RAF1)	NP_001341618.1:p.Thr661Ala
NM_001354690.2:c.1921A>G (RAF1)	NP_001341619.1:p.Thr641Ala
NM_001354691.2:c.1678A>G (RAF1)	NP_001341620.1:p.Thr560Ala
NM_001354692.2:c.1678A>G (RAF1)	NP_001341621.1:p.Thr560Ala
NM_001354693.2:c.1822A>G (RAF1)	NP_001341622.1:p.Thr608Ala
NM_001354694.2:c.1738A>G (RAF1)	NP_001341623.1:p.Thr580Ala
NM_001354695.2:c.1579A>G (RAF1)	NP_001341624.1:p.Thr527Ala
NR_148940.2:n.2365A>G (RAF1)
NR_148941.2:n.2311A>G (RAF1)
NR_148942.2:n.2250A>G (RAF1)
NM_001354690.3:c.1921A>G (RAF1)	NP_001341619.1:p.Thr641Ala
NM_001354691.3:c.1678A>G (RAF1)	NP_001341620.1:p.Thr560Ala
NM_001354692.3:c.1678A>G (RAF1)	NP_001341621.1:p.Thr560Ala
NM_001354693.3:c.1822A>G (RAF1)	NP_001341622.1:p.Thr608Ala
NM_001354694.3:c.1738A>G (RAF1)	NP_001341623.1:p.Thr580Ala
NM_001354695.3:c.1579A>G (RAF1)	NP_001341624.1:p.Thr527Ala
NM_002880.4:c.1921A>G (RAF1) MANE Select	NP_002871.1:p.Thr641Ala
NR_148940.3:n.2365A>G (RAF1)
NR_148941.3:n.2311A>G (RAF1)
NR_148942.3:n.2250A>G (RAF1)