Canonical Allele Identifier: CA279978

Gene: BRAF

Linked Data

• ClinVar Variation Id: 13980
• ClinVar RCV Id: RCV000015014 ; RCV000208775 ; RCV000623633 ; RCV000779634 ; RCV001257953
• dbSNP Id: rs180177041
• COSMIC: COSM5419312
• MyVariant Identifiers: chr7:g.140476806C>G (hg19) ; chr7:g.140777006C>G (hg38)
• PubMed: PMID:4386970 ; PMID:5771505 ; PMID:16372351 ; PMID:16523510 ; PMID:16804887 ; PMID:16825433 ; PMID:17551924 ; PMID:18039235 ; PMID:18413255 ; PMID:19206169 ; PMID:20301365 ; PMID:23875798

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777006C>G , CM000669.2:g.140777006C>G	GRCh38
NC_000007.13:g.140476806C>G , CM000669.1:g.140476806C>G	GRCh37
NC_000007.12:g.140123275C>G	NCBI36
NG_007873.3:g.152759G>C , LRG_299:g.152759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1600G>C MANE Select	ENSP00000493543.1:p.Gly534Arg
ENST00000288602.11:c.1720G>C	ENSP00000288602.7:p.Gly574Arg
ENST00000479537.6:c.270G>C
ENST00000496384.7:c.1600G>C	ENSP00000419060.2:p.Gly534Arg
ENST00000497784.2:c.*1050G>C	ENSP00000420119.2:n.*1050G>C
ENST00000642228.1:c.*678G>C	ENSP00000493678.1:n.*678G>C
ENST00000642875.1:n.1164G>C
ENST00000644120.1:n.1990G>C
ENST00000644650.1:c.696G>C
ENST00000644905.1:n.1689G>C
ENST00000644969.2:c.1720G>C MANE Plus Clinical	ENSP00000496776.1:p.Gly574Arg
ENST00000646730.1:c.1600G>C	ENSP00000494784.1:p.Gly534Arg
ENST00000646891.1:c.1600G>C	ENSP00000493543.1:p.Gly534Arg
ENST00000647434.1:c.643G>C	ENSP00000495132.1:p.Gly215Arg
ENST00000288602.10:c.1600G>C	ENSP00000288602.6:p.Gly534Arg
ENST00000496384.6:c.423G>C
ENST00000497784.1:c.1635G>C	ENSP00000420119.1:n.1635G>C
NM_004333.4:c.1600G>C , LRG_299t1:c.1600G>C	NP_004324.2:p.Gly534Arg
XM_005250045.1:c.1600G>C	XP_005250102.1:p.Gly534Arg
XM_005250046.1:c.1600G>C	XP_005250103.1:p.Gly534Arg
XM_011516529.1:c.1600G>C	XP_011514831.1:p.Gly534Arg
XM_011516530.1:c.1600G>C	XP_011514832.1:p.Gly534Arg
XR_242190.1:n.1608G>C
XR_927520.1:n.1608G>C
XR_927521.1:n.1608G>C
XR_927522.1:n.1608G>C
XR_927523.1:n.1608G>C
NM_001354609.1:c.1600G>C	NP_001341538.1:p.Gly534Arg
NM_004333.5:c.1600G>C	NP_004324.2:p.Gly534Arg
NR_148928.1:n.1905G>C
XM_017012558.1:c.1720G>C	XP_016868047.1:p.Gly574Arg
XM_017012559.1:c.1720G>C	XP_016868048.1:p.Gly574Arg
XR_001744857.1:n.1728G>C
XR_001744858.1:n.1728G>C
NM_001354609.2:c.1600G>C	NP_001341538.1:p.Gly534Arg
NM_001374244.1:c.1720G>C	NP_001361173.1:p.Gly574Arg
NM_001374258.1:c.1720G>C MANE Plus Clinical	NP_001361187.1:p.Gly574Arg
NM_004333.6:c.1600G>C MANE Select	NP_004324.2:p.Gly534Arg
NM_001378467.1:c.1609G>C	NP_001365396.1:p.Gly537Arg
NM_001378468.1:c.1600G>C	NP_001365397.1:p.Gly534Arg
NM_001378469.1:c.1534G>C	NP_001365398.1:p.Gly512Arg
NM_001378470.1:c.1498G>C	NP_001365399.1:p.Gly500Arg
NM_001378471.1:c.1489G>C	NP_001365400.1:p.Gly497Arg
NM_001378472.1:c.1444G>C	NP_001365401.1:p.Gly482Arg
NM_001378473.1:c.1444G>C	NP_001365402.1:p.Gly482Arg
NM_001378474.1:c.1600G>C	NP_001365403.1:p.Gly534Arg
NM_001378475.1:c.1336G>C	NP_001365404.1:p.Gly446Arg