Canonical Allele Identifier: CA369588986

Gene: BRAF

Linked Data

• dbSNP Id: rs2129023846
• COSMIC: COSM6191485
• MyVariant Identifiers: chr7:g.140481458C>T (hg19) ; chr7:g.140781658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781658C>T , CM000669.2:g.140781658C>T	GRCh38
NC_000007.13:g.140481458C>T , CM000669.1:g.140481458C>T	GRCh37
NC_000007.12:g.140127927C>T	NCBI36
NG_007873.3:g.148107G>A , LRG_299:g.148107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1350G>A MANE Select	ENSP00000493543.1:p.Trp450Ter
ENST00000288602.11:c.1470G>A	ENSP00000288602.7:p.Trp490Ter
ENST00000479537.6:c.20G>A
ENST00000496384.7:c.1350G>A	ENSP00000419060.2:p.Trp450Ter
ENST00000497784.2:c.*800G>A	ENSP00000420119.2:n.*800G>A
ENST00000642228.1:c.*428G>A	ENSP00000493678.1:n.*428G>A
ENST00000642875.1:n.792G>A
ENST00000644120.1:n.1740G>A
ENST00000644650.1:c.446G>A
ENST00000644905.1:n.1439G>A
ENST00000644969.2:c.1470G>A MANE Plus Clinical	ENSP00000496776.1:p.Trp490Ter
ENST00000646334.1:n.480G>A
ENST00000646730.1:c.1350G>A	ENSP00000494784.1:p.Trp450Ter
ENST00000646891.1:c.1350G>A	ENSP00000493543.1:p.Trp450Ter
ENST00000647434.1:c.393G>A	ENSP00000495132.1:p.Trp131Ter
ENST00000288602.10:c.1350G>A	ENSP00000288602.6:p.Trp450Ter
ENST00000496384.6:c.173G>A
ENST00000497784.1:c.1385G>A	ENSP00000420119.1:n.1385G>A
NM_004333.4:c.1350G>A , LRG_299t1:c.1350G>A	NP_004324.2:p.Trp450Ter
XM_005250045.1:c.1350G>A	XP_005250102.1:p.Trp450Ter
XM_005250046.1:c.1350G>A	XP_005250103.1:p.Trp450Ter
XM_011516529.1:c.1350G>A	XP_011514831.1:p.Trp450Ter
XM_011516530.1:c.1350G>A	XP_011514832.1:p.Trp450Ter
XR_242190.1:n.1358G>A
XR_927520.1:n.1358G>A
XR_927521.1:n.1358G>A
XR_927522.1:n.1358G>A
XR_927523.1:n.1358G>A
NM_001354609.1:c.1350G>A	NP_001341538.1:p.Trp450Ter
NM_004333.5:c.1350G>A	NP_004324.2:p.Trp450Ter
NR_148928.1:n.1655G>A
XM_017012558.1:c.1470G>A	XP_016868047.1:p.Trp490Ter
XM_017012559.1:c.1470G>A	XP_016868048.1:p.Trp490Ter
XR_001744857.1:n.1478G>A
XR_001744858.1:n.1478G>A
NM_001354609.2:c.1350G>A	NP_001341538.1:p.Trp450Ter
NM_001374244.1:c.1470G>A	NP_001361173.1:p.Trp490Ter
NM_001374258.1:c.1470G>A MANE Plus Clinical	NP_001361187.1:p.Trp490Ter
NM_004333.6:c.1350G>A MANE Select	NP_004324.2:p.Trp450Ter
NM_001378467.1:c.1359G>A	NP_001365396.1:p.Trp453Ter
NM_001378468.1:c.1350G>A	NP_001365397.1:p.Trp450Ter
NM_001378469.1:c.1284G>A	NP_001365398.1:p.Trp428Ter
NM_001378470.1:c.1248G>A	NP_001365399.1:p.Trp416Ter
NM_001378471.1:c.1239G>A	NP_001365400.1:p.Trp413Ter
NM_001378472.1:c.1194G>A	NP_001365401.1:p.Trp398Ter
NM_001378473.1:c.1194G>A	NP_001365402.1:p.Trp398Ter
NM_001378474.1:c.1350G>A	NP_001365403.1:p.Trp450Ter
NM_001378475.1:c.1086G>A	NP_001365404.1:p.Trp362Ter