Canonical Allele Identifier: CA280051

Gene: BRAF

Linked Data

• ClinVar Variation Id: 162797
• ClinVar RCV Id: RCV000150199 ; RCV000157831 ; RCV000624589 ; RCV000689333 ; RCV000767527 ; RCV000999624
• dbSNP Id: rs180177042
• MyVariant Identifiers: chr7:g.140449165A>C (hg19) ; chr7:g.140749365A>C (hg38)
• PubMed: PMID:4386970 ; PMID:5771505 ; PMID:16523510 ; PMID:16804887 ; PMID:16825433 ; PMID:18039235 ; PMID:18413255 ; PMID:19206169 ; PMID:21063443 ; PMID:23875798

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140749365A>C , CM000669.2:g.140749365A>C	GRCh38
NC_000007.13:g.140449165A>C , CM000669.1:g.140449165A>C	GRCh37
NC_000007.12:g.140095634A>C	NCBI36
NG_007873.3:g.180400T>G , LRG_299:g.180400T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1914T>G MANE Select	ENSP00000493543.1:p.Asp638Glu
ENST00000288602.11:c.2034T>G	ENSP00000288602.7:p.Asp678Glu
ENST00000479537.6:c.584T>G
ENST00000496384.7:c.1914T>G	ENSP00000419060.2:p.Asp638Glu
ENST00000497784.2:c.*1364T>G	ENSP00000420119.2:n.*1364T>G
ENST00000642228.1:c.*992T>G	ENSP00000493678.1:n.*992T>G
ENST00000642875.1:n.1312T>G
ENST00000644120.1:n.2304T>G
ENST00000644650.1:c.1010T>G
ENST00000644905.1:n.2796T>G
ENST00000644969.2:c.2034T>G MANE Plus Clinical	ENSP00000496776.1:p.Asp678Glu
ENST00000646730.1:c.*490T>G	ENSP00000494784.1:n.*490T>G
ENST00000646891.1:c.1914T>G	ENSP00000493543.1:p.Asp638Glu
ENST00000647434.1:c.791T>G	ENSP00000495132.1:p.Met264Arg
ENST00000288602.10:c.1914T>G	ENSP00000288602.6:p.Asp638Glu
ENST00000479537.5:c.198T>G	ENSP00000418033.1:p.Asp66Glu
ENST00000496384.6:c.737T>G
ENST00000497784.1:c.1949T>G	ENSP00000420119.1:n.1949T>G
NM_004333.4:c.1914T>G , LRG_299t1:c.1914T>G	NP_004324.2:p.Asp638Glu
XM_005250045.1:c.1914T>G	XP_005250102.1:p.Asp638Glu
XM_005250046.1:c.1914T>G	XP_005250103.1:p.Asp638Glu
XM_011516529.1:c.1914T>G	XP_011514831.1:p.Asp638Glu
XM_011516530.1:c.1748T>G	XP_011514832.1:p.Met583Arg
XR_242190.1:n.1922T>G
XR_927520.1:n.1922T>G
XR_927521.1:n.1922T>G
XR_927522.1:n.1756T>G
XR_927523.1:n.1756T>G
NM_001354609.1:c.1914T>G	NP_001341538.1:p.Asp638Glu
NM_004333.5:c.1914T>G	NP_004324.2:p.Asp638Glu
NR_148928.1:n.3012T>G
XM_017012558.1:c.2034T>G	XP_016868047.1:p.Asp678Glu
XM_017012559.1:c.2034T>G	XP_016868048.1:p.Asp678Glu
XR_001744857.1:n.2042T>G
XR_001744858.1:n.1876T>G
NM_001354609.2:c.1914T>G	NP_001341538.1:p.Asp638Glu
NM_001374244.1:c.2034T>G	NP_001361173.1:p.Asp678Glu
NM_001374258.1:c.2034T>G MANE Plus Clinical	NP_001361187.1:p.Asp678Glu
NM_004333.6:c.1914T>G MANE Select	NP_004324.2:p.Asp638Glu
NM_001378467.1:c.1923T>G	NP_001365396.1:p.Asp641Glu
NM_001378468.1:c.1914T>G	NP_001365397.1:p.Asp638Glu
NM_001378469.1:c.1848T>G	NP_001365398.1:p.Asp616Glu
NM_001378470.1:c.1812T>G	NP_001365399.1:p.Asp604Glu
NM_001378471.1:c.1803T>G	NP_001365400.1:p.Asp601Glu
NM_001378472.1:c.1758T>G	NP_001365401.1:p.Asp586Glu
NM_001378473.1:c.1758T>G	NP_001365402.1:p.Asp586Glu
NM_001378474.1:c.1914T>G	NP_001365403.1:p.Asp638Glu
NM_001378475.1:c.1650T>G	NP_001365404.1:p.Asp550Glu