Canonical Allele Identifier: CA280022

Gene: BRAF

Linked Data

• ClinVar Variation Id: 44811
• ClinVar RCV Id: RCV000037929 ; RCV000524048 ; RCV000763165
• dbSNP Id: rs397516895
• MyVariant Identifiers: chr7:g.140453192A>T (hg19) ; chr7:g.140753392A>T (hg38)
• PubMed: PMID:17704260

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753392A>T , CM000669.2:g.140753392A>T	GRCh38
NC_000007.13:g.140453192A>T , CM000669.1:g.140453192A>T	GRCh37
NC_000007.12:g.140099661A>T	NCBI36
NG_007873.3:g.176373T>A , LRG_299:g.176373T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1743T>A MANE Select	ENSP00000493543.1:p.Asn581Lys
ENST00000288602.11:c.1863T>A	ENSP00000288602.7:p.Asn621Lys
ENST00000479537.6:c.413T>A
ENST00000496384.7:c.1743T>A	ENSP00000419060.2:p.Asn581Lys
ENST00000497784.2:c.*1193T>A	ENSP00000420119.2:n.*1193T>A
ENST00000642228.1:c.*821T>A	ENSP00000493678.1:n.*821T>A
ENST00000642875.1:n.1259-3974T>A
ENST00000644120.1:n.2133T>A
ENST00000644650.1:c.839T>A
ENST00000644905.1:n.2625T>A
ENST00000644969.2:c.1863T>A MANE Plus Clinical	ENSP00000496776.1:p.Asn621Lys
ENST00000646730.1:c.*319T>A	ENSP00000494784.1:n.*319T>A
ENST00000646891.1:c.1743T>A	ENSP00000493543.1:p.Asn581Lys
ENST00000647434.1:c.738-3974T>A	ENSP00000495132.1:n.738-3974T>A
ENST00000288602.10:c.1743T>A	ENSP00000288602.6:p.Asn581Lys
ENST00000479537.5:c.27T>A	ENSP00000418033.1:p.Asn9Lys
ENST00000496384.6:c.566T>A
ENST00000497784.1:c.1778T>A	ENSP00000420119.1:n.1778T>A
NM_004333.4:c.1743T>A , LRG_299t1:c.1743T>A	NP_004324.2:p.Asn581Lys
XM_005250045.1:c.1743T>A	XP_005250102.1:p.Asn581Lys
XM_005250046.1:c.1743T>A	XP_005250103.1:p.Asn581Lys
XM_011516529.1:c.1743T>A	XP_011514831.1:p.Asn581Lys
XM_011516530.1:c.1695-3974T>A	XP_011514832.1:n.1695-3974T>A
XR_242190.1:n.1751T>A
XR_927520.1:n.1751T>A
XR_927521.1:n.1751T>A
XR_927522.1:n.1703-3974T>A
XR_927523.1:n.1703-3974T>A
NM_001354609.1:c.1743T>A	NP_001341538.1:p.Asn581Lys
NM_004333.5:c.1743T>A	NP_004324.2:p.Asn581Lys
NR_148928.1:n.2841T>A
XM_017012558.1:c.1863T>A	XP_016868047.1:p.Asn621Lys
XM_017012559.1:c.1863T>A	XP_016868048.1:p.Asn621Lys
XR_001744857.1:n.1871T>A
XR_001744858.1:n.1823-3974T>A
NM_001354609.2:c.1743T>A	NP_001341538.1:p.Asn581Lys
NM_001374244.1:c.1863T>A	NP_001361173.1:p.Asn621Lys
NM_001374258.1:c.1863T>A MANE Plus Clinical	NP_001361187.1:p.Asn621Lys
NM_004333.6:c.1743T>A MANE Select	NP_004324.2:p.Asn581Lys
NM_001378467.1:c.1752T>A	NP_001365396.1:p.Asn584Lys
NM_001378468.1:c.1743T>A	NP_001365397.1:p.Asn581Lys
NM_001378469.1:c.1677T>A	NP_001365398.1:p.Asn559Lys
NM_001378470.1:c.1641T>A	NP_001365399.1:p.Asn547Lys
NM_001378471.1:c.1632T>A	NP_001365400.1:p.Asn544Lys
NM_001378472.1:c.1587T>A	NP_001365401.1:p.Asn529Lys
NM_001378473.1:c.1587T>A	NP_001365402.1:p.Asn529Lys
NM_001378474.1:c.1743T>A	NP_001365403.1:p.Asn581Lys
NM_001378475.1:c.1479T>A	NP_001365404.1:p.Asn493Lys