Canonical Allele Identifier: CA279981

Gene: BRAF

Linked Data

• ClinVar Variation Id: 13981
• ClinVar RCV Id: RCV000015015 ; RCV000033337 ; RCV000622900 ; RCV000763164 ; RCV001851863
• dbSNP Id: rs180177042
• MyVariant Identifiers: chr7:g.140449165A>T (hg19) ; chr7:g.140749365A>T (hg38)
• PubMed: PMID:4386970 ; PMID:5771505 ; PMID:16372351 ; PMID:16523510 ; PMID:16804887 ; PMID:16825433 ; PMID:18039235 ; PMID:18413255 ; PMID:19206169 ; PMID:23875798

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1914T>A MANE Select	ENSP00000493543.1:p.Asp638Glu
ENST00000288602.11:c.2034T>A	ENSP00000288602.7:p.Asp678Glu
ENST00000479537.6:c.584T>A
ENST00000496384.7:c.1914T>A	ENSP00000419060.2:p.Asp638Glu
ENST00000497784.2:c.*1364T>A	ENSP00000420119.2:n.*1364T>A
ENST00000642228.1:c.*992T>A	ENSP00000493678.1:n.*992T>A
ENST00000642875.1:n.1312T>A
ENST00000644120.1:n.2304T>A
ENST00000644650.1:c.1010T>A
ENST00000644905.1:n.2796T>A
ENST00000644969.2:c.2034T>A MANE Plus Clinical	ENSP00000496776.1:p.Asp678Glu
ENST00000646730.1:c.*490T>A	ENSP00000494784.1:n.*490T>A
ENST00000646891.1:c.1914T>A	ENSP00000493543.1:p.Asp638Glu
ENST00000647434.1:c.791T>A	ENSP00000495132.1:p.Met264Lys
ENST00000288602.10:c.1914T>A	ENSP00000288602.6:p.Asp638Glu
ENST00000479537.5:c.198T>A	ENSP00000418033.1:p.Asp66Glu
ENST00000496384.6:c.737T>A
ENST00000497784.1:c.1949T>A	ENSP00000420119.1:n.1949T>A
NM_004333.4:c.1914T>A , LRG_299t1:c.1914T>A	NP_004324.2:p.Asp638Glu
XM_005250045.1:c.1914T>A	XP_005250102.1:p.Asp638Glu
XM_005250046.1:c.1914T>A	XP_005250103.1:p.Asp638Glu
XM_011516529.1:c.1914T>A	XP_011514831.1:p.Asp638Glu
XM_011516530.1:c.1748T>A	XP_011514832.1:p.Met583Lys
XR_242190.1:n.1922T>A
XR_927520.1:n.1922T>A
XR_927521.1:n.1922T>A
XR_927522.1:n.1756T>A
XR_927523.1:n.1756T>A
NM_001354609.1:c.1914T>A	NP_001341538.1:p.Asp638Glu
NM_004333.5:c.1914T>A	NP_004324.2:p.Asp638Glu
NR_148928.1:n.3012T>A
XM_017012558.1:c.2034T>A	XP_016868047.1:p.Asp678Glu
XM_017012559.1:c.2034T>A	XP_016868048.1:p.Asp678Glu
XR_001744857.1:n.2042T>A
XR_001744858.1:n.1876T>A
NM_001354609.2:c.1914T>A	NP_001341538.1:p.Asp638Glu
NM_001374244.1:c.2034T>A	NP_001361173.1:p.Asp678Glu
NM_001374258.1:c.2034T>A MANE Plus Clinical	NP_001361187.1:p.Asp678Glu
NM_004333.6:c.1914T>A MANE Select	NP_004324.2:p.Asp638Glu
NM_001378467.1:c.1923T>A	NP_001365396.1:p.Asp641Glu
NM_001378468.1:c.1914T>A	NP_001365397.1:p.Asp638Glu
NM_001378469.1:c.1848T>A	NP_001365398.1:p.Asp616Glu
NM_001378470.1:c.1812T>A	NP_001365399.1:p.Asp604Glu
NM_001378471.1:c.1803T>A	NP_001365400.1:p.Asp601Glu
NM_001378472.1:c.1758T>A	NP_001365401.1:p.Asp586Glu
NM_001378473.1:c.1758T>A	NP_001365402.1:p.Asp586Glu
NM_001378474.1:c.1914T>A	NP_001365403.1:p.Asp638Glu
NM_001378475.1:c.1650T>A	NP_001365404.1:p.Asp550Glu