Canonical Allele Identifier: CA369588987

Gene: BRAF

Linked Data

• dbSNP Id: rs2129023850
• COSMIC: COSM378503
• MyVariant Identifiers: chr7:g.140481459C>A (hg19) ; chr7:g.140781659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781659C>A , CM000669.2:g.140781659C>A	GRCh38
NC_000007.13:g.140481459C>A , CM000669.1:g.140481459C>A	GRCh37
NC_000007.12:g.140127928C>A	NCBI36
NG_007873.3:g.148106G>T , LRG_299:g.148106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1349G>T MANE Select	ENSP00000493543.1:p.Trp450Leu
ENST00000288602.11:c.1469G>T	ENSP00000288602.7:p.Trp490Leu
ENST00000479537.6:c.19G>T
ENST00000496384.7:c.1349G>T	ENSP00000419060.2:p.Trp450Leu
ENST00000497784.2:c.*799G>T	ENSP00000420119.2:n.*799G>T
ENST00000642228.1:c.*427G>T	ENSP00000493678.1:n.*427G>T
ENST00000642875.1:n.791G>T
ENST00000644120.1:n.1739G>T
ENST00000644650.1:c.445G>T
ENST00000644905.1:n.1438G>T
ENST00000644969.2:c.1469G>T MANE Plus Clinical	ENSP00000496776.1:p.Trp490Leu
ENST00000646334.1:n.479G>T
ENST00000646730.1:c.1349G>T	ENSP00000494784.1:p.Trp450Leu
ENST00000646891.1:c.1349G>T	ENSP00000493543.1:p.Trp450Leu
ENST00000647434.1:c.392G>T	ENSP00000495132.1:p.Trp131Leu
ENST00000288602.10:c.1349G>T	ENSP00000288602.6:p.Trp450Leu
ENST00000496384.6:c.172G>T
ENST00000497784.1:c.1384G>T	ENSP00000420119.1:n.1384G>T
NM_004333.4:c.1349G>T , LRG_299t1:c.1349G>T	NP_004324.2:p.Trp450Leu
XM_005250045.1:c.1349G>T	XP_005250102.1:p.Trp450Leu
XM_005250046.1:c.1349G>T	XP_005250103.1:p.Trp450Leu
XM_011516529.1:c.1349G>T	XP_011514831.1:p.Trp450Leu
XM_011516530.1:c.1349G>T	XP_011514832.1:p.Trp450Leu
XR_242190.1:n.1357G>T
XR_927520.1:n.1357G>T
XR_927521.1:n.1357G>T
XR_927522.1:n.1357G>T
XR_927523.1:n.1357G>T
NM_001354609.1:c.1349G>T	NP_001341538.1:p.Trp450Leu
NM_004333.5:c.1349G>T	NP_004324.2:p.Trp450Leu
NR_148928.1:n.1654G>T
XM_017012558.1:c.1469G>T	XP_016868047.1:p.Trp490Leu
XM_017012559.1:c.1469G>T	XP_016868048.1:p.Trp490Leu
XR_001744857.1:n.1477G>T
XR_001744858.1:n.1477G>T
NM_001354609.2:c.1349G>T	NP_001341538.1:p.Trp450Leu
NM_001374244.1:c.1469G>T	NP_001361173.1:p.Trp490Leu
NM_001374258.1:c.1469G>T MANE Plus Clinical	NP_001361187.1:p.Trp490Leu
NM_004333.6:c.1349G>T MANE Select	NP_004324.2:p.Trp450Leu
NM_001378467.1:c.1358G>T	NP_001365396.1:p.Trp453Leu
NM_001378468.1:c.1349G>T	NP_001365397.1:p.Trp450Leu
NM_001378469.1:c.1283G>T	NP_001365398.1:p.Trp428Leu
NM_001378470.1:c.1247G>T	NP_001365399.1:p.Trp416Leu
NM_001378471.1:c.1238G>T	NP_001365400.1:p.Trp413Leu
NM_001378472.1:c.1193G>T	NP_001365401.1:p.Trp398Leu
NM_001378473.1:c.1193G>T	NP_001365402.1:p.Trp398Leu
NM_001378474.1:c.1349G>T	NP_001365403.1:p.Trp450Leu
NM_001378475.1:c.1085G>T	NP_001365404.1:p.Trp362Leu