Canonical Allele Identifier: CA369588212

Gene: BRAF

Linked Data

• ClinVar Variation Id: 520890
• ClinVar RCV Id: RCV000622500 ; RCV001532123 ; RCV002468592 ; RCV002531885
• dbSNP Id: rs869025340
• MyVariant Identifiers: chr7:g.140476832A>T (hg19) ; chr7:g.140777032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777032A>T , CM000669.2:g.140777032A>T	GRCh38
NC_000007.13:g.140476832A>T , CM000669.1:g.140476832A>T	GRCh37
NC_000007.12:g.140123301A>T	NCBI36
NG_007873.3:g.152733T>A , LRG_299:g.152733T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1574T>A MANE Select	ENSP00000493543.1:p.Leu525Gln
ENST00000288602.11:c.1694T>A	ENSP00000288602.7:p.Leu565Gln
ENST00000479537.6:c.244T>A
ENST00000496384.7:c.1574T>A	ENSP00000419060.2:p.Leu525Gln
ENST00000497784.2:c.*1024T>A	ENSP00000420119.2:n.*1024T>A
ENST00000642228.1:c.*652T>A	ENSP00000493678.1:n.*652T>A
ENST00000642875.1:n.1138T>A
ENST00000644120.1:n.1964T>A
ENST00000644650.1:c.670T>A
ENST00000644905.1:n.1663T>A
ENST00000644969.2:c.1694T>A MANE Plus Clinical	ENSP00000496776.1:p.Leu565Gln
ENST00000646730.1:c.1574T>A	ENSP00000494784.1:p.Leu525Gln
ENST00000646891.1:c.1574T>A	ENSP00000493543.1:p.Leu525Gln
ENST00000647434.1:c.617T>A	ENSP00000495132.1:p.Leu206Gln
ENST00000288602.10:c.1574T>A	ENSP00000288602.6:p.Leu525Gln
ENST00000496384.6:c.397T>A
ENST00000497784.1:c.1609T>A	ENSP00000420119.1:n.1609T>A
NM_004333.4:c.1574T>A , LRG_299t1:c.1574T>A	NP_004324.2:p.Leu525Gln
XM_005250045.1:c.1574T>A	XP_005250102.1:p.Leu525Gln
XM_005250046.1:c.1574T>A	XP_005250103.1:p.Leu525Gln
XM_011516529.1:c.1574T>A	XP_011514831.1:p.Leu525Gln
XM_011516530.1:c.1574T>A	XP_011514832.1:p.Leu525Gln
XR_242190.1:n.1582T>A
XR_927520.1:n.1582T>A
XR_927521.1:n.1582T>A
XR_927522.1:n.1582T>A
XR_927523.1:n.1582T>A
NM_001354609.1:c.1574T>A	NP_001341538.1:p.Leu525Gln
NM_004333.5:c.1574T>A	NP_004324.2:p.Leu525Gln
NR_148928.1:n.1879T>A
XM_017012558.1:c.1694T>A	XP_016868047.1:p.Leu565Gln
XM_017012559.1:c.1694T>A	XP_016868048.1:p.Leu565Gln
XR_001744857.1:n.1702T>A
XR_001744858.1:n.1702T>A
NM_001354609.2:c.1574T>A	NP_001341538.1:p.Leu525Gln
NM_001374244.1:c.1694T>A	NP_001361173.1:p.Leu565Gln
NM_001374258.1:c.1694T>A MANE Plus Clinical	NP_001361187.1:p.Leu565Gln
NM_004333.6:c.1574T>A MANE Select	NP_004324.2:p.Leu525Gln
NM_001378467.1:c.1583T>A	NP_001365396.1:p.Leu528Gln
NM_001378468.1:c.1574T>A	NP_001365397.1:p.Leu525Gln
NM_001378469.1:c.1508T>A	NP_001365398.1:p.Leu503Gln
NM_001378470.1:c.1472T>A	NP_001365399.1:p.Leu491Gln
NM_001378471.1:c.1463T>A	NP_001365400.1:p.Leu488Gln
NM_001378472.1:c.1418T>A	NP_001365401.1:p.Leu473Gln
NM_001378473.1:c.1418T>A	NP_001365402.1:p.Leu473Gln
NM_001378474.1:c.1574T>A	NP_001365403.1:p.Leu525Gln
NM_001378475.1:c.1310T>A	NP_001365404.1:p.Leu437Gln