Canonical Allele Identifier: CA279974

Gene: BRAF

Linked Data

• ClinVar Variation Id: 13978
• ClinVar RCV Id: RCV000015012 ; RCV000211750 ; RCV000207518 ; RCV000414915 ; RCV000808147 ; RCV001273349
• dbSNP Id: rs180177039
• MyVariant Identifiers: chr7:g.140477806T>C (hg19) ; chr7:g.140778006T>C (hg38)
• PubMed: PMID:16439621 ; PMID:16474404 ; PMID:17366577 ; PMID:17704260 ; PMID:18413255

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778006T>C , CM000669.2:g.140778006T>C	GRCh38
NC_000007.13:g.140477806T>C , CM000669.1:g.140477806T>C	GRCh37
NC_000007.12:g.140124275T>C	NCBI36
NG_007873.3:g.151759A>G , LRG_299:g.151759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1502A>G MANE Select	ENSP00000493543.1:p.Glu501Gly
ENST00000288602.11:c.1622A>G	ENSP00000288602.7:p.Glu541Gly
ENST00000479537.6:c.172A>G
ENST00000496384.7:c.1502A>G	ENSP00000419060.2:p.Glu501Gly
ENST00000497784.2:c.*952A>G	ENSP00000420119.2:n.*952A>G
ENST00000642228.1:c.*580A>G	ENSP00000493678.1:n.*580A>G
ENST00000642875.1:n.1066A>G
ENST00000644120.1:n.1892A>G
ENST00000644650.1:c.598A>G
ENST00000644905.1:n.1591A>G
ENST00000644969.2:c.1622A>G MANE Plus Clinical	ENSP00000496776.1:p.Glu541Gly
ENST00000646730.1:c.1502A>G	ENSP00000494784.1:p.Glu501Gly
ENST00000646891.1:c.1502A>G	ENSP00000493543.1:p.Glu501Gly
ENST00000647434.1:c.545A>G	ENSP00000495132.1:p.Glu182Gly
ENST00000288602.10:c.1502A>G	ENSP00000288602.6:p.Glu501Gly
ENST00000496384.6:c.325A>G
ENST00000497784.1:c.1537A>G	ENSP00000420119.1:n.1537A>G
NM_004333.4:c.1502A>G , LRG_299t1:c.1502A>G	NP_004324.2:p.Glu501Gly
XM_005250045.1:c.1502A>G	XP_005250102.1:p.Glu501Gly
XM_005250046.1:c.1502A>G	XP_005250103.1:p.Glu501Gly
XM_011516529.1:c.1502A>G	XP_011514831.1:p.Glu501Gly
XM_011516530.1:c.1502A>G	XP_011514832.1:p.Glu501Gly
XR_242190.1:n.1510A>G
XR_927520.1:n.1510A>G
XR_927521.1:n.1510A>G
XR_927522.1:n.1510A>G
XR_927523.1:n.1510A>G
NM_001354609.1:c.1502A>G	NP_001341538.1:p.Glu501Gly
NM_004333.5:c.1502A>G	NP_004324.2:p.Glu501Gly
NR_148928.1:n.1807A>G
XM_017012558.1:c.1622A>G	XP_016868047.1:p.Glu541Gly
XM_017012559.1:c.1622A>G	XP_016868048.1:p.Glu541Gly
XR_001744857.1:n.1630A>G
XR_001744858.1:n.1630A>G
NM_001354609.2:c.1502A>G	NP_001341538.1:p.Glu501Gly
NM_001374244.1:c.1622A>G	NP_001361173.1:p.Glu541Gly
NM_001374258.1:c.1622A>G MANE Plus Clinical	NP_001361187.1:p.Glu541Gly
NM_004333.6:c.1502A>G MANE Select	NP_004324.2:p.Glu501Gly
NM_001378467.1:c.1511A>G	NP_001365396.1:p.Glu504Gly
NM_001378468.1:c.1502A>G	NP_001365397.1:p.Glu501Gly
NM_001378469.1:c.1436A>G	NP_001365398.1:p.Glu479Gly
NM_001378470.1:c.1400A>G	NP_001365399.1:p.Glu467Gly
NM_001378471.1:c.1391A>G	NP_001365400.1:p.Glu464Gly
NM_001378472.1:c.1346A>G	NP_001365401.1:p.Glu449Gly
NM_001378473.1:c.1346A>G	NP_001365402.1:p.Glu449Gly
NM_001378474.1:c.1502A>G	NP_001365403.1:p.Glu501Gly
NM_001378475.1:c.1238A>G	NP_001365404.1:p.Glu413Gly