Canonical Allele Identifier: CA280071

Gene: BRAF

Linked Data

• ClinVar Variation Id: 202193
• ClinVar RCV Id: RCV000184039 ; RCV000414439 ; RCV000427091 ; RCV002222430 ; RCV002291588 ; RCV002516942
• dbSNP Id: rs794729219
• COSMIC: COSM21612
• MyVariant Identifiers: chr7:g.140453152A>G (hg19) ; chr7:g.140753352A>G (hg38)
• PubMed: PMID:16439621 ; PMID:18042262 ; PMID:20301365 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753352A>G , CM000669.2:g.140753352A>G	GRCh38
NC_000007.13:g.140453152A>G , CM000669.1:g.140453152A>G	GRCh37
NC_000007.12:g.140099621A>G	NCBI36
NG_007873.3:g.176413T>C , LRG_299:g.176413T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1783T>C MANE Select	ENSP00000493543.1:p.Phe595Leu
ENST00000288602.11:c.1903T>C	ENSP00000288602.7:p.Phe635Leu
ENST00000479537.6:c.453T>C
ENST00000496384.7:c.1783T>C	ENSP00000419060.2:p.Phe595Leu
ENST00000497784.2:c.*1233T>C	ENSP00000420119.2:n.*1233T>C
ENST00000642228.1:c.*861T>C	ENSP00000493678.1:n.*861T>C
ENST00000642875.1:n.1259-3934T>C
ENST00000644120.1:n.2173T>C
ENST00000644650.1:c.879T>C
ENST00000644905.1:n.2665T>C
ENST00000644969.2:c.1903T>C MANE Plus Clinical	ENSP00000496776.1:p.Phe635Leu
ENST00000646730.1:c.*359T>C	ENSP00000494784.1:n.*359T>C
ENST00000646891.1:c.1783T>C	ENSP00000493543.1:p.Phe595Leu
ENST00000647434.1:c.738-3934T>C	ENSP00000495132.1:n.738-3934T>C
ENST00000288602.10:c.1783T>C	ENSP00000288602.6:p.Phe595Leu
ENST00000479537.5:c.67T>C	ENSP00000418033.1:p.Phe23Leu
ENST00000496384.6:c.606T>C
ENST00000497784.1:c.1818T>C	ENSP00000420119.1:n.1818T>C
NM_004333.4:c.1783T>C , LRG_299t1:c.1783T>C	NP_004324.2:p.Phe595Leu
XM_005250045.1:c.1783T>C	XP_005250102.1:p.Phe595Leu
XM_005250046.1:c.1783T>C	XP_005250103.1:p.Phe595Leu
XM_011516529.1:c.1783T>C	XP_011514831.1:p.Phe595Leu
XM_011516530.1:c.1695-3934T>C	XP_011514832.1:n.1695-3934T>C
XR_242190.1:n.1791T>C
XR_927520.1:n.1791T>C
XR_927521.1:n.1791T>C
XR_927522.1:n.1703-3934T>C
XR_927523.1:n.1703-3934T>C
NM_001354609.1:c.1783T>C	NP_001341538.1:p.Phe595Leu
NM_004333.5:c.1783T>C	NP_004324.2:p.Phe595Leu
NR_148928.1:n.2881T>C
XM_017012558.1:c.1903T>C	XP_016868047.1:p.Phe635Leu
XM_017012559.1:c.1903T>C	XP_016868048.1:p.Phe635Leu
XR_001744857.1:n.1911T>C
XR_001744858.1:n.1823-3934T>C
NM_001354609.2:c.1783T>C	NP_001341538.1:p.Phe595Leu
NM_001374244.1:c.1903T>C	NP_001361173.1:p.Phe635Leu
NM_001374258.1:c.1903T>C MANE Plus Clinical	NP_001361187.1:p.Phe635Leu
NM_004333.6:c.1783T>C MANE Select	NP_004324.2:p.Phe595Leu
NM_001378467.1:c.1792T>C	NP_001365396.1:p.Phe598Leu
NM_001378468.1:c.1783T>C	NP_001365397.1:p.Phe595Leu
NM_001378469.1:c.1717T>C	NP_001365398.1:p.Phe573Leu
NM_001378470.1:c.1681T>C	NP_001365399.1:p.Phe561Leu
NM_001378471.1:c.1672T>C	NP_001365400.1:p.Phe558Leu
NM_001378472.1:c.1627T>C	NP_001365401.1:p.Phe543Leu
NM_001378473.1:c.1627T>C	NP_001365402.1:p.Phe543Leu
NM_001378474.1:c.1783T>C	NP_001365403.1:p.Phe595Leu
NM_001378475.1:c.1519T>C	NP_001365404.1:p.Phe507Leu