Canonical Allele Identifier: CA369537947

Gene: BRAF

Linked Data

• dbSNP Id: rs2130899279
• MyVariant Identifiers: chr7:g.140439628C>T (hg19) ; chr7:g.140739828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140739828C>T , CM000669.2:g.140739828C>T	GRCh38
NC_000007.13:g.140439628C>T , CM000669.1:g.140439628C>T	GRCh37
NC_000007.12:g.140086097C>T	NCBI36
NG_007873.3:g.189937G>A , LRG_299:g.189937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.2111G>A MANE Select	ENSP00000493543.1:p.Arg704Lys
ENST00000288602.11:c.2231G>A	ENSP00000288602.7:p.Arg744Lys
ENST00000479537.6:c.863G>A
ENST00000496384.7:c.2111G>A	ENSP00000419060.2:p.Arg704Lys
ENST00000497784.2:c.*1561G>A	ENSP00000420119.2:n.*1561G>A
ENST00000642228.1:c.*1189G>A	ENSP00000493678.1:n.*1189G>A
ENST00000642875.1:n.1509G>A
ENST00000644120.1:n.2501G>A
ENST00000644650.1:c.1410G>A
ENST00000644905.1:n.2993G>A
ENST00000644969.2:c.2231G>A MANE Plus Clinical	ENSP00000496776.1:p.Arg744Lys
ENST00000645443.1:n.1890G>A
ENST00000646730.1:c.*769G>A	ENSP00000494784.1:n.*769G>A
ENST00000646891.1:c.2111G>A	ENSP00000493543.1:p.Arg704Lys
ENST00000647434.1:c.988G>A	ENSP00000495132.1:n.988G>A
ENST00000288602.10:c.2111G>A	ENSP00000288602.6:p.Arg704Lys
ENST00000479537.5:c.477G>A	ENSP00000418033.1:n.477G>A
ENST00000496384.6:c.934G>A
ENST00000497784.1:c.2146G>A	ENSP00000420119.1:n.2146G>A
NM_004333.4:c.2111G>A , LRG_299t1:c.2111G>A	NP_004324.2:p.Arg704Lys
XM_005250045.1:c.2111G>A	XP_005250102.1:p.Arg704Lys
XM_005250046.1:c.2111G>A	XP_005250103.1:p.Arg704Lys
XM_011516529.1:c.2111G>A	XP_011514831.1:p.Arg704Lys
XR_242190.1:n.2201G>A
XR_927520.1:n.2240G>A
XR_927521.1:n.2322G>A
XR_927522.1:n.1953G>A
XR_927523.1:n.2035G>A
NM_001354609.1:c.2111G>A	NP_001341538.1:p.Arg704Lys
NM_004333.5:c.2111G>A	NP_004324.2:p.Arg704Lys
NR_148928.1:n.3209G>A
XM_017012558.1:c.2231G>A	XP_016868047.1:p.Arg744Lys
XM_017012559.1:c.2231G>A	XP_016868048.1:p.Arg744Lys
XR_001744857.1:n.2321G>A
XR_001744858.1:n.2073G>A
NM_001354609.2:c.2111G>A	NP_001341538.1:p.Arg704Lys
NM_001374244.1:c.2231G>A	NP_001361173.1:p.Arg744Lys
NM_001374258.1:c.2231G>A MANE Plus Clinical	NP_001361187.1:p.Arg744Lys
NM_004333.6:c.2111G>A MANE Select	NP_004324.2:p.Arg704Lys
NM_001378467.1:c.2120G>A	NP_001365396.1:p.Arg707Lys
NM_001378468.1:c.2111G>A	NP_001365397.1:p.Arg704Lys
NM_001378469.1:c.2045G>A	NP_001365398.1:p.Arg682Lys
NM_001378470.1:c.2009G>A	NP_001365399.1:p.Arg670Lys
NM_001378471.1:c.2000G>A	NP_001365400.1:p.Arg667Lys
NM_001378472.1:c.1955G>A	NP_001365401.1:p.Arg652Lys
NM_001378473.1:c.1955G>A	NP_001365402.1:p.Arg652Lys
NM_001378474.1:c.2111G>A	NP_001365403.1:p.Arg704Lys
NM_001378475.1:c.1847G>A	NP_001365404.1:p.Arg616Lys