Canonical Allele Identifier: CA261657

Gene: BRAF

Linked Data

• ClinVar Variation Id: 44804
• ClinVar RCV Id: RCV000037920 ; RCV000681421
• dbSNP Id: rs397516891
• MyVariant Identifiers: chr7:g.140481399G>C (hg19) ; chr7:g.140781599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781599G>C , CM000669.2:g.140781599G>C	GRCh38
NC_000007.13:g.140481399G>C , CM000669.1:g.140481399G>C	GRCh37
NC_000007.12:g.140127868G>C	NCBI36
NG_007873.3:g.148166C>G , LRG_299:g.148166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1409C>G MANE Select	ENSP00000493543.1:p.Thr470Arg
ENST00000288602.11:c.1529C>G	ENSP00000288602.7:p.Thr510Arg
ENST00000479537.6:c.79C>G
ENST00000496384.7:c.1409C>G	ENSP00000419060.2:p.Thr470Arg
ENST00000497784.2:c.*859C>G	ENSP00000420119.2:n.*859C>G
ENST00000642228.1:c.*487C>G	ENSP00000493678.1:n.*487C>G
ENST00000642875.1:n.851C>G
ENST00000644120.1:n.1799C>G
ENST00000644650.1:c.505C>G
ENST00000644905.1:n.1498C>G
ENST00000644969.2:c.1529C>G MANE Plus Clinical	ENSP00000496776.1:p.Thr510Arg
ENST00000646334.1:n.539C>G
ENST00000646730.1:c.1409C>G	ENSP00000494784.1:p.Thr470Arg
ENST00000646891.1:c.1409C>G	ENSP00000493543.1:p.Thr470Arg
ENST00000647434.1:c.452C>G	ENSP00000495132.1:p.Thr151Arg
ENST00000288602.10:c.1409C>G	ENSP00000288602.6:p.Thr470Arg
ENST00000496384.6:c.232C>G
ENST00000497784.1:c.1444C>G	ENSP00000420119.1:n.1444C>G
NM_004333.4:c.1409C>G , LRG_299t1:c.1409C>G	NP_004324.2:p.Thr470Arg
XM_005250045.1:c.1409C>G	XP_005250102.1:p.Thr470Arg
XM_005250046.1:c.1409C>G	XP_005250103.1:p.Thr470Arg
XM_011516529.1:c.1409C>G	XP_011514831.1:p.Thr470Arg
XM_011516530.1:c.1409C>G	XP_011514832.1:p.Thr470Arg
XR_242190.1:n.1417C>G
XR_927520.1:n.1417C>G
XR_927521.1:n.1417C>G
XR_927522.1:n.1417C>G
XR_927523.1:n.1417C>G
NM_001354609.1:c.1409C>G	NP_001341538.1:p.Thr470Arg
NM_004333.5:c.1409C>G	NP_004324.2:p.Thr470Arg
NR_148928.1:n.1714C>G
XM_017012558.1:c.1529C>G	XP_016868047.1:p.Thr510Arg
XM_017012559.1:c.1529C>G	XP_016868048.1:p.Thr510Arg
XR_001744857.1:n.1537C>G
XR_001744858.1:n.1537C>G
NM_001354609.2:c.1409C>G	NP_001341538.1:p.Thr470Arg
NM_001374244.1:c.1529C>G	NP_001361173.1:p.Thr510Arg
NM_001374258.1:c.1529C>G MANE Plus Clinical	NP_001361187.1:p.Thr510Arg
NM_004333.6:c.1409C>G MANE Select	NP_004324.2:p.Thr470Arg
NM_001378467.1:c.1418C>G	NP_001365396.1:p.Thr473Arg
NM_001378468.1:c.1409C>G	NP_001365397.1:p.Thr470Arg
NM_001378469.1:c.1343C>G	NP_001365398.1:p.Thr448Arg
NM_001378470.1:c.1307C>G	NP_001365399.1:p.Thr436Arg
NM_001378471.1:c.1298C>G	NP_001365400.1:p.Thr433Arg
NM_001378472.1:c.1253C>G	NP_001365401.1:p.Thr418Arg
NM_001378473.1:c.1253C>G	NP_001365402.1:p.Thr418Arg
NM_001378474.1:c.1409C>G	NP_001365403.1:p.Thr470Arg
NM_001378475.1:c.1145C>G	NP_001365404.1:p.Thr382Arg