Canonical Allele Identifier: CA273130

Gene: BRAF

Linked Data

• ClinVar Variation Id: 13977
• ClinVar RCV Id: RCV000015011 ; RCV000033315 ; RCV000207513 ; RCV000844616 ; RCV004018630
• dbSNP Id: rs180177038
• COSMIC: COSM5417703
• MyVariant Identifiers: chr7:g.140477807C>T (hg19) ; chr7:g.140778007C>T (hg38)
• PubMed: PMID:3265306 ; PMID:16439621 ; PMID:16474404 ; PMID:17603482 ; PMID:19206169 ; PMID:23093928 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140778007C>T , CM000669.2:g.140778007C>T	GRCh38
NC_000007.13:g.140477807C>T , CM000669.1:g.140477807C>T	GRCh37
NC_000007.12:g.140124276C>T	NCBI36
NG_007873.3:g.151758G>A , LRG_299:g.151758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1501G>A MANE Select	ENSP00000493543.1:p.Glu501Lys
ENST00000288602.11:c.1621G>A	ENSP00000288602.7:p.Glu541Lys
ENST00000479537.6:c.171G>A
ENST00000496384.7:c.1501G>A	ENSP00000419060.2:p.Glu501Lys
ENST00000497784.2:c.*951G>A	ENSP00000420119.2:n.*951G>A
ENST00000642228.1:c.*579G>A	ENSP00000493678.1:n.*579G>A
ENST00000642875.1:n.1065G>A
ENST00000644120.1:n.1891G>A
ENST00000644650.1:c.597G>A
ENST00000644905.1:n.1590G>A
ENST00000644969.2:c.1621G>A MANE Plus Clinical	ENSP00000496776.1:p.Glu541Lys
ENST00000646730.1:c.1501G>A	ENSP00000494784.1:p.Glu501Lys
ENST00000646891.1:c.1501G>A	ENSP00000493543.1:p.Glu501Lys
ENST00000647434.1:c.544G>A	ENSP00000495132.1:p.Glu182Lys
ENST00000288602.10:c.1501G>A	ENSP00000288602.6:p.Glu501Lys
ENST00000496384.6:c.324G>A
ENST00000497784.1:c.1536G>A	ENSP00000420119.1:n.1536G>A
NM_004333.4:c.1501G>A , LRG_299t1:c.1501G>A	NP_004324.2:p.Glu501Lys
XM_005250045.1:c.1501G>A	XP_005250102.1:p.Glu501Lys
XM_005250046.1:c.1501G>A	XP_005250103.1:p.Glu501Lys
XM_011516529.1:c.1501G>A	XP_011514831.1:p.Glu501Lys
XM_011516530.1:c.1501G>A	XP_011514832.1:p.Glu501Lys
XR_242190.1:n.1509G>A
XR_927520.1:n.1509G>A
XR_927521.1:n.1509G>A
XR_927522.1:n.1509G>A
XR_927523.1:n.1509G>A
NM_001354609.1:c.1501G>A	NP_001341538.1:p.Glu501Lys
NM_004333.5:c.1501G>A	NP_004324.2:p.Glu501Lys
NR_148928.1:n.1806G>A
XM_017012558.1:c.1621G>A	XP_016868047.1:p.Glu541Lys
XM_017012559.1:c.1621G>A	XP_016868048.1:p.Glu541Lys
XR_001744857.1:n.1629G>A
XR_001744858.1:n.1629G>A
NM_001354609.2:c.1501G>A	NP_001341538.1:p.Glu501Lys
NM_001374244.1:c.1621G>A	NP_001361173.1:p.Glu541Lys
NM_001374258.1:c.1621G>A MANE Plus Clinical	NP_001361187.1:p.Glu541Lys
NM_004333.6:c.1501G>A MANE Select	NP_004324.2:p.Glu501Lys
NM_001378467.1:c.1510G>A	NP_001365396.1:p.Glu504Lys
NM_001378468.1:c.1501G>A	NP_001365397.1:p.Glu501Lys
NM_001378469.1:c.1435G>A	NP_001365398.1:p.Glu479Lys
NM_001378470.1:c.1399G>A	NP_001365399.1:p.Glu467Lys
NM_001378471.1:c.1390G>A	NP_001365400.1:p.Glu464Lys
NM_001378472.1:c.1345G>A	NP_001365401.1:p.Glu449Lys
NM_001378473.1:c.1345G>A	NP_001365402.1:p.Glu449Lys
NM_001378474.1:c.1501G>A	NP_001365403.1:p.Glu501Lys
NM_001378475.1:c.1237G>A	NP_001365404.1:p.Glu413Lys