Canonical Allele Identifier: CA369542944

Gene: BRAF

Linked Data

• gnomAD v4: 7-140753319-C-T
• COSMIC: COSM27640
• MyVariant Identifiers: chr7:g.140453119C>T (hg19) ; chr7:g.140753319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753319C>T , CM000669.2:g.140753319C>T	GRCh38
NC_000007.13:g.140453119C>T , CM000669.1:g.140453119C>T	GRCh37
NC_000007.12:g.140099588C>T	NCBI36
NG_007873.3:g.176446G>A , LRG_299:g.176446G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1816G>A MANE Select	ENSP00000493543.1:p.Gly606Arg
ENST00000288602.11:c.1936G>A	ENSP00000288602.7:p.Gly646Arg
ENST00000479537.6:c.486G>A
ENST00000496384.7:c.1816G>A	ENSP00000419060.2:p.Gly606Arg
ENST00000497784.2:c.*1266G>A	ENSP00000420119.2:n.*1266G>A
ENST00000642228.1:c.*894G>A	ENSP00000493678.1:n.*894G>A
ENST00000642875.1:n.1259-3901G>A
ENST00000644120.1:n.2206G>A
ENST00000644650.1:c.912G>A
ENST00000644905.1:n.2698G>A
ENST00000644969.2:c.1936G>A MANE Plus Clinical	ENSP00000496776.1:p.Gly646Arg
ENST00000646730.1:c.*392G>A	ENSP00000494784.1:n.*392G>A
ENST00000646891.1:c.1816G>A	ENSP00000493543.1:p.Gly606Arg
ENST00000647434.1:c.738-3901G>A	ENSP00000495132.1:n.738-3901G>A
ENST00000288602.10:c.1816G>A	ENSP00000288602.6:p.Gly606Arg
ENST00000479537.5:c.100G>A	ENSP00000418033.1:p.Gly34Arg
ENST00000496384.6:c.639G>A
ENST00000497784.1:c.1851G>A	ENSP00000420119.1:n.1851G>A
NM_004333.4:c.1816G>A , LRG_299t1:c.1816G>A	NP_004324.2:p.Gly606Arg
XM_005250045.1:c.1816G>A	XP_005250102.1:p.Gly606Arg
XM_005250046.1:c.1816G>A	XP_005250103.1:p.Gly606Arg
XM_011516529.1:c.1816G>A	XP_011514831.1:p.Gly606Arg
XM_011516530.1:c.1695-3901G>A	XP_011514832.1:n.1695-3901G>A
XR_242190.1:n.1824G>A
XR_927520.1:n.1824G>A
XR_927521.1:n.1824G>A
XR_927522.1:n.1703-3901G>A
XR_927523.1:n.1703-3901G>A
NM_001354609.1:c.1816G>A	NP_001341538.1:p.Gly606Arg
NM_004333.5:c.1816G>A	NP_004324.2:p.Gly606Arg
NR_148928.1:n.2914G>A
XM_017012558.1:c.1936G>A	XP_016868047.1:p.Gly646Arg
XM_017012559.1:c.1936G>A	XP_016868048.1:p.Gly646Arg
XR_001744857.1:n.1944G>A
XR_001744858.1:n.1823-3901G>A
NM_001354609.2:c.1816G>A	NP_001341538.1:p.Gly606Arg
NM_001374244.1:c.1936G>A	NP_001361173.1:p.Gly646Arg
NM_001374258.1:c.1936G>A MANE Plus Clinical	NP_001361187.1:p.Gly646Arg
NM_004333.6:c.1816G>A MANE Select	NP_004324.2:p.Gly606Arg
NM_001378467.1:c.1825G>A	NP_001365396.1:p.Gly609Arg
NM_001378468.1:c.1816G>A	NP_001365397.1:p.Gly606Arg
NM_001378469.1:c.1750G>A	NP_001365398.1:p.Gly584Arg
NM_001378470.1:c.1714G>A	NP_001365399.1:p.Gly572Arg
NM_001378471.1:c.1705G>A	NP_001365400.1:p.Gly569Arg
NM_001378472.1:c.1660G>A	NP_001365401.1:p.Gly554Arg
NM_001378473.1:c.1660G>A	NP_001365402.1:p.Gly554Arg
NM_001378474.1:c.1816G>A	NP_001365403.1:p.Gly606Arg
NM_001378475.1:c.1552G>A	NP_001365404.1:p.Gly518Arg