Canonical Allele Identifier: CA369541001

Gene: BRAF

Linked Data

• COSMIC: COSM1448581
• MyVariant Identifiers: chr7:g.140449170A>G (hg19) ; chr7:g.140749370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140749370A>G , CM000669.2:g.140749370A>G	GRCh38
NC_000007.13:g.140449170A>G , CM000669.1:g.140449170A>G	GRCh37
NC_000007.12:g.140095639A>G	NCBI36
NG_007873.3:g.180395T>C , LRG_299:g.180395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1909T>C MANE Select	ENSP00000493543.1:p.Ser637Pro
ENST00000288602.11:c.2029T>C	ENSP00000288602.7:p.Ser677Pro
ENST00000479537.6:c.579T>C
ENST00000496384.7:c.1909T>C	ENSP00000419060.2:p.Ser637Pro
ENST00000497784.2:c.*1359T>C	ENSP00000420119.2:n.*1359T>C
ENST00000642228.1:c.*987T>C	ENSP00000493678.1:n.*987T>C
ENST00000642875.1:n.1307T>C
ENST00000644120.1:n.2299T>C
ENST00000644650.1:c.1005T>C
ENST00000644905.1:n.2791T>C
ENST00000644969.2:c.2029T>C MANE Plus Clinical	ENSP00000496776.1:p.Ser677Pro
ENST00000646730.1:c.*485T>C	ENSP00000494784.1:n.*485T>C
ENST00000646891.1:c.1909T>C	ENSP00000493543.1:p.Ser637Pro
ENST00000647434.1:c.786T>C	ENSP00000495132.1:p.Ser262=
ENST00000288602.10:c.1909T>C	ENSP00000288602.6:p.Ser637Pro
ENST00000479537.5:c.193T>C	ENSP00000418033.1:p.Ser65Pro
ENST00000496384.6:c.732T>C
ENST00000497784.1:c.1944T>C	ENSP00000420119.1:n.1944T>C
NM_004333.4:c.1909T>C , LRG_299t1:c.1909T>C	NP_004324.2:p.Ser637Pro
XM_005250045.1:c.1909T>C	XP_005250102.1:p.Ser637Pro
XM_005250046.1:c.1909T>C	XP_005250103.1:p.Ser637Pro
XM_011516529.1:c.1909T>C	XP_011514831.1:p.Ser637Pro
XM_011516530.1:c.1743T>C	XP_011514832.1:p.Ser581=
XR_242190.1:n.1917T>C
XR_927520.1:n.1917T>C
XR_927521.1:n.1917T>C
XR_927522.1:n.1751T>C
XR_927523.1:n.1751T>C
NM_001354609.1:c.1909T>C	NP_001341538.1:p.Ser637Pro
NM_004333.5:c.1909T>C	NP_004324.2:p.Ser637Pro
NR_148928.1:n.3007T>C
XM_017012558.1:c.2029T>C	XP_016868047.1:p.Ser677Pro
XM_017012559.1:c.2029T>C	XP_016868048.1:p.Ser677Pro
XR_001744857.1:n.2037T>C
XR_001744858.1:n.1871T>C
NM_001354609.2:c.1909T>C	NP_001341538.1:p.Ser637Pro
NM_001374244.1:c.2029T>C	NP_001361173.1:p.Ser677Pro
NM_001374258.1:c.2029T>C MANE Plus Clinical	NP_001361187.1:p.Ser677Pro
NM_004333.6:c.1909T>C MANE Select	NP_004324.2:p.Ser637Pro
NM_001378467.1:c.1918T>C	NP_001365396.1:p.Ser640Pro
NM_001378468.1:c.1909T>C	NP_001365397.1:p.Ser637Pro
NM_001378469.1:c.1843T>C	NP_001365398.1:p.Ser615Pro
NM_001378470.1:c.1807T>C	NP_001365399.1:p.Ser603Pro
NM_001378471.1:c.1798T>C	NP_001365400.1:p.Ser600Pro
NM_001378472.1:c.1753T>C	NP_001365401.1:p.Ser585Pro
NM_001378473.1:c.1753T>C	NP_001365402.1:p.Ser585Pro
NM_001378474.1:c.1909T>C	NP_001365403.1:p.Ser637Pro
NM_001378475.1:c.1645T>C	NP_001365404.1:p.Ser549Pro