Canonical Allele Identifier: CA369588998

Gene: BRAF

Linked Data

• dbSNP Id: rs2129023868
• COSMIC: COSM6196684
• MyVariant Identifiers: chr7:g.140481463C>A (hg19) ; chr7:g.140781663C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781663C>A , CM000669.2:g.140781663C>A	GRCh38
NC_000007.13:g.140481463C>A , CM000669.1:g.140481463C>A	GRCh37
NC_000007.12:g.140127932C>A	NCBI36
NG_007873.3:g.148102G>T , LRG_299:g.148102G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1345G>T MANE Select	ENSP00000493543.1:p.Asp449Tyr
ENST00000288602.11:c.1465G>T	ENSP00000288602.7:p.Asp489Tyr
ENST00000479537.6:c.15G>T
ENST00000496384.7:c.1345G>T	ENSP00000419060.2:p.Asp449Tyr
ENST00000497784.2:c.*795G>T	ENSP00000420119.2:n.*795G>T
ENST00000642228.1:c.*423G>T	ENSP00000493678.1:n.*423G>T
ENST00000642875.1:n.787G>T
ENST00000644120.1:n.1735G>T
ENST00000644650.1:c.441G>T
ENST00000644905.1:n.1434G>T
ENST00000644969.2:c.1465G>T MANE Plus Clinical	ENSP00000496776.1:p.Asp489Tyr
ENST00000646334.1:n.475G>T
ENST00000646730.1:c.1345G>T	ENSP00000494784.1:p.Asp449Tyr
ENST00000646891.1:c.1345G>T	ENSP00000493543.1:p.Asp449Tyr
ENST00000647434.1:c.388G>T	ENSP00000495132.1:p.Asp130Tyr
ENST00000288602.10:c.1345G>T	ENSP00000288602.6:p.Asp449Tyr
ENST00000496384.6:c.168G>T
ENST00000497784.1:c.1380G>T	ENSP00000420119.1:n.1380G>T
NM_004333.4:c.1345G>T , LRG_299t1:c.1345G>T	NP_004324.2:p.Asp449Tyr
XM_005250045.1:c.1345G>T	XP_005250102.1:p.Asp449Tyr
XM_005250046.1:c.1345G>T	XP_005250103.1:p.Asp449Tyr
XM_011516529.1:c.1345G>T	XP_011514831.1:p.Asp449Tyr
XM_011516530.1:c.1345G>T	XP_011514832.1:p.Asp449Tyr
XR_242190.1:n.1353G>T
XR_927520.1:n.1353G>T
XR_927521.1:n.1353G>T
XR_927522.1:n.1353G>T
XR_927523.1:n.1353G>T
NM_001354609.1:c.1345G>T	NP_001341538.1:p.Asp449Tyr
NM_004333.5:c.1345G>T	NP_004324.2:p.Asp449Tyr
NR_148928.1:n.1650G>T
XM_017012558.1:c.1465G>T	XP_016868047.1:p.Asp489Tyr
XM_017012559.1:c.1465G>T	XP_016868048.1:p.Asp489Tyr
XR_001744857.1:n.1473G>T
XR_001744858.1:n.1473G>T
NM_001354609.2:c.1345G>T	NP_001341538.1:p.Asp449Tyr
NM_001374244.1:c.1465G>T	NP_001361173.1:p.Asp489Tyr
NM_001374258.1:c.1465G>T MANE Plus Clinical	NP_001361187.1:p.Asp489Tyr
NM_004333.6:c.1345G>T MANE Select	NP_004324.2:p.Asp449Tyr
NM_001378467.1:c.1354G>T	NP_001365396.1:p.Asp452Tyr
NM_001378468.1:c.1345G>T	NP_001365397.1:p.Asp449Tyr
NM_001378469.1:c.1279G>T	NP_001365398.1:p.Asp427Tyr
NM_001378470.1:c.1243G>T	NP_001365399.1:p.Asp415Tyr
NM_001378471.1:c.1234G>T	NP_001365400.1:p.Asp412Tyr
NM_001378472.1:c.1189G>T	NP_001365401.1:p.Asp397Tyr
NM_001378473.1:c.1189G>T	NP_001365402.1:p.Asp397Tyr
NM_001378474.1:c.1345G>T	NP_001365403.1:p.Asp449Tyr
NM_001378475.1:c.1081G>T	NP_001365404.1:p.Asp361Tyr