Canonical Allele Identifier: CA123655

Gene: BRAF

Linked Data

• ClinVar Variation Id: 13971
• ClinVar RCV Id: RCV000015005 ; RCV000150210 ; RCV000419278 ; RCV000422572 ; RCV000421485 ; RCV000430006 ; RCV000432193 ; RCV000432393 ; RCV000439564 ; RCV000444131 ; RCV000440864 ; RCV000439801
• dbSNP Id: rs121913355
• gnomAD v2: 7-140481402-C-G
• gnomAD v4: 7-140781602-C-G
• COSMIC: COSM460
• MyVariant Identifiers: chr7:g.140481402C>G (hg19) ; chr7:g.140781602C>G (hg38)
• CIViC: CA123655
• PubMed: PMID:12068308 ; PMID:12460918 ; PMID:12460919 ; PMID:14612909 ; PMID:15035987 ; PMID:18186519 ; PMID:19010912 ; PMID:19238210 ; PMID:19537845 ; PMID:20350999 ; PMID:21129611 ; PMID:21483012 ; PMID:22310681 ; PMID:22649091 ; PMID:22773810 ; PMID:23833300 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781602C>G , CM000669.2:g.140781602C>G	GRCh38
NC_000007.13:g.140481402C>G , CM000669.1:g.140481402C>G	GRCh37
NC_000007.12:g.140127871C>G	NCBI36
NG_007873.3:g.148163G>C , LRG_299:g.148163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1406G>C MANE Select	ENSP00000493543.1:p.Gly469Ala
ENST00000288602.11:c.1526G>C	ENSP00000288602.7:p.Gly509Ala
ENST00000479537.6:c.76G>C
ENST00000496384.7:c.1406G>C	ENSP00000419060.2:p.Gly469Ala
ENST00000497784.2:c.*856G>C	ENSP00000420119.2:n.*856G>C
ENST00000642228.1:c.*484G>C	ENSP00000493678.1:n.*484G>C
ENST00000642875.1:n.848G>C
ENST00000644120.1:n.1796G>C
ENST00000644650.1:c.502G>C
ENST00000644905.1:n.1495G>C
ENST00000644969.2:c.1526G>C MANE Plus Clinical	ENSP00000496776.1:p.Gly509Ala
ENST00000646334.1:n.536G>C
ENST00000646730.1:c.1406G>C	ENSP00000494784.1:p.Gly469Ala
ENST00000646891.1:c.1406G>C	ENSP00000493543.1:p.Gly469Ala
ENST00000647434.1:c.449G>C	ENSP00000495132.1:p.Gly150Ala
ENST00000288602.10:c.1406G>C	ENSP00000288602.6:p.Gly469Ala
ENST00000496384.6:c.229G>C
ENST00000497784.1:c.1441G>C	ENSP00000420119.1:n.1441G>C
NM_004333.4:c.1406G>C , LRG_299t1:c.1406G>C	NP_004324.2:p.Gly469Ala
XM_005250045.1:c.1406G>C	XP_005250102.1:p.Gly469Ala
XM_005250046.1:c.1406G>C	XP_005250103.1:p.Gly469Ala
XM_011516529.1:c.1406G>C	XP_011514831.1:p.Gly469Ala
XM_011516530.1:c.1406G>C	XP_011514832.1:p.Gly469Ala
XR_242190.1:n.1414G>C
XR_927520.1:n.1414G>C
XR_927521.1:n.1414G>C
XR_927522.1:n.1414G>C
XR_927523.1:n.1414G>C
NM_001354609.1:c.1406G>C	NP_001341538.1:p.Gly469Ala
NM_004333.5:c.1406G>C	NP_004324.2:p.Gly469Ala
NR_148928.1:n.1711G>C
XM_017012558.1:c.1526G>C	XP_016868047.1:p.Gly509Ala
XM_017012559.1:c.1526G>C	XP_016868048.1:p.Gly509Ala
XR_001744857.1:n.1534G>C
XR_001744858.1:n.1534G>C
NM_001354609.2:c.1406G>C	NP_001341538.1:p.Gly469Ala
NM_001374244.1:c.1526G>C	NP_001361173.1:p.Gly509Ala
NM_001374258.1:c.1526G>C MANE Plus Clinical	NP_001361187.1:p.Gly509Ala
NM_004333.6:c.1406G>C MANE Select	NP_004324.2:p.Gly469Ala
NM_001378467.1:c.1415G>C	NP_001365396.1:p.Gly472Ala
NM_001378468.1:c.1406G>C	NP_001365397.1:p.Gly469Ala
NM_001378469.1:c.1340G>C	NP_001365398.1:p.Gly447Ala
NM_001378470.1:c.1304G>C	NP_001365399.1:p.Gly435Ala
NM_001378471.1:c.1295G>C	NP_001365400.1:p.Gly432Ala
NM_001378472.1:c.1250G>C	NP_001365401.1:p.Gly417Ala
NM_001378473.1:c.1250G>C	NP_001365402.1:p.Gly417Ala
NM_001378474.1:c.1406G>C	NP_001365403.1:p.Gly469Ala
NM_001378475.1:c.1142G>C	NP_001365404.1:p.Gly381Ala