Canonical Allele Identifier: CA369543117

Gene: BRAF

Linked Data

• gnomAD v4: 7-140753346-G-T
• MyVariant Identifiers: chr7:g.140453146G>T (hg19) ; chr7:g.140753346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753346G>T , CM000669.2:g.140753346G>T	GRCh38
NC_000007.13:g.140453146G>T , CM000669.1:g.140453146G>T	GRCh37
NC_000007.12:g.140099615G>T	NCBI36
NG_007873.3:g.176419C>A , LRG_299:g.176419C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1789C>A MANE Select	ENSP00000493543.1:p.Leu597Ile
ENST00000288602.11:c.1909C>A	ENSP00000288602.7:p.Leu637Ile
ENST00000479537.6:c.459C>A
ENST00000496384.7:c.1789C>A	ENSP00000419060.2:p.Leu597Ile
ENST00000497784.2:c.*1239C>A	ENSP00000420119.2:n.*1239C>A
ENST00000642228.1:c.*867C>A	ENSP00000493678.1:n.*867C>A
ENST00000642875.1:n.1259-3928C>A
ENST00000644120.1:n.2179C>A
ENST00000644650.1:c.885C>A
ENST00000644905.1:n.2671C>A
ENST00000644969.2:c.1909C>A MANE Plus Clinical	ENSP00000496776.1:p.Leu637Ile
ENST00000646730.1:c.*365C>A	ENSP00000494784.1:n.*365C>A
ENST00000646891.1:c.1789C>A	ENSP00000493543.1:p.Leu597Ile
ENST00000647434.1:c.738-3928C>A	ENSP00000495132.1:n.738-3928C>A
ENST00000288602.10:c.1789C>A	ENSP00000288602.6:p.Leu597Ile
ENST00000479537.5:c.73C>A	ENSP00000418033.1:p.Leu25Ile
ENST00000496384.6:c.612C>A
ENST00000497784.1:c.1824C>A	ENSP00000420119.1:n.1824C>A
NM_004333.4:c.1789C>A , LRG_299t1:c.1789C>A	NP_004324.2:p.Leu597Ile
XM_005250045.1:c.1789C>A	XP_005250102.1:p.Leu597Ile
XM_005250046.1:c.1789C>A	XP_005250103.1:p.Leu597Ile
XM_011516529.1:c.1789C>A	XP_011514831.1:p.Leu597Ile
XM_011516530.1:c.1695-3928C>A	XP_011514832.1:n.1695-3928C>A
XR_242190.1:n.1797C>A
XR_927520.1:n.1797C>A
XR_927521.1:n.1797C>A
XR_927522.1:n.1703-3928C>A
XR_927523.1:n.1703-3928C>A
NM_001354609.1:c.1789C>A	NP_001341538.1:p.Leu597Ile
NM_004333.5:c.1789C>A	NP_004324.2:p.Leu597Ile
NR_148928.1:n.2887C>A
XM_017012558.1:c.1909C>A	XP_016868047.1:p.Leu637Ile
XM_017012559.1:c.1909C>A	XP_016868048.1:p.Leu637Ile
XR_001744857.1:n.1917C>A
XR_001744858.1:n.1823-3928C>A
NM_001354609.2:c.1789C>A	NP_001341538.1:p.Leu597Ile
NM_001374244.1:c.1909C>A	NP_001361173.1:p.Leu637Ile
NM_001374258.1:c.1909C>A MANE Plus Clinical	NP_001361187.1:p.Leu637Ile
NM_004333.6:c.1789C>A MANE Select	NP_004324.2:p.Leu597Ile
NM_001378467.1:c.1798C>A	NP_001365396.1:p.Leu600Ile
NM_001378468.1:c.1789C>A	NP_001365397.1:p.Leu597Ile
NM_001378469.1:c.1723C>A	NP_001365398.1:p.Leu575Ile
NM_001378470.1:c.1687C>A	NP_001365399.1:p.Leu563Ile
NM_001378471.1:c.1678C>A	NP_001365400.1:p.Leu560Ile
NM_001378472.1:c.1633C>A	NP_001365401.1:p.Leu545Ile
NM_001378473.1:c.1633C>A	NP_001365402.1:p.Leu545Ile
NM_001378474.1:c.1789C>A	NP_001365403.1:p.Leu597Ile
NM_001378475.1:c.1525C>A	NP_001365404.1:p.Leu509Ile