Canonical Allele Identifier: CA281983

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40379
• ClinVar RCV Id: RCV000626038
• dbSNP Id: rs397507478
• MyVariant Identifiers: chr7:g.140476814C>A (hg19) ; chr7:g.140777014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777014C>A , CM000669.2:g.140777014C>A	GRCh38
NC_000007.13:g.140476814C>A , CM000669.1:g.140476814C>A	GRCh37
NC_000007.12:g.140123283C>A	NCBI36
NG_007873.3:g.152751G>T , LRG_299:g.152751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1592G>T MANE Select	ENSP00000493543.1:p.Trp531Leu
ENST00000288602.11:c.1712G>T	ENSP00000288602.7:p.Trp571Leu
ENST00000479537.6:c.262G>T
ENST00000496384.7:c.1592G>T	ENSP00000419060.2:p.Trp531Leu
ENST00000497784.2:c.*1042G>T	ENSP00000420119.2:n.*1042G>T
ENST00000642228.1:c.*670G>T	ENSP00000493678.1:n.*670G>T
ENST00000642875.1:n.1156G>T
ENST00000644120.1:n.1982G>T
ENST00000644650.1:c.688G>T
ENST00000644905.1:n.1681G>T
ENST00000644969.2:c.1712G>T MANE Plus Clinical	ENSP00000496776.1:p.Trp571Leu
ENST00000646730.1:c.1592G>T	ENSP00000494784.1:p.Trp531Leu
ENST00000646891.1:c.1592G>T	ENSP00000493543.1:p.Trp531Leu
ENST00000647434.1:c.635G>T	ENSP00000495132.1:p.Trp212Leu
ENST00000288602.10:c.1592G>T	ENSP00000288602.6:p.Trp531Leu
ENST00000496384.6:c.415G>T
ENST00000497784.1:c.1627G>T	ENSP00000420119.1:n.1627G>T
NM_004333.4:c.1592G>T , LRG_299t1:c.1592G>T	NP_004324.2:p.Trp531Leu
XM_005250045.1:c.1592G>T	XP_005250102.1:p.Trp531Leu
XM_005250046.1:c.1592G>T	XP_005250103.1:p.Trp531Leu
XM_011516529.1:c.1592G>T	XP_011514831.1:p.Trp531Leu
XM_011516530.1:c.1592G>T	XP_011514832.1:p.Trp531Leu
XR_242190.1:n.1600G>T
XR_927520.1:n.1600G>T
XR_927521.1:n.1600G>T
XR_927522.1:n.1600G>T
XR_927523.1:n.1600G>T
NM_001354609.1:c.1592G>T	NP_001341538.1:p.Trp531Leu
NM_004333.5:c.1592G>T	NP_004324.2:p.Trp531Leu
NR_148928.1:n.1897G>T
XM_017012558.1:c.1712G>T	XP_016868047.1:p.Trp571Leu
XM_017012559.1:c.1712G>T	XP_016868048.1:p.Trp571Leu
XR_001744857.1:n.1720G>T
XR_001744858.1:n.1720G>T
NM_001354609.2:c.1592G>T	NP_001341538.1:p.Trp531Leu
NM_001374244.1:c.1712G>T	NP_001361173.1:p.Trp571Leu
NM_001374258.1:c.1712G>T MANE Plus Clinical	NP_001361187.1:p.Trp571Leu
NM_004333.6:c.1592G>T MANE Select	NP_004324.2:p.Trp531Leu
NM_001378467.1:c.1601G>T	NP_001365396.1:p.Trp534Leu
NM_001378468.1:c.1592G>T	NP_001365397.1:p.Trp531Leu
NM_001378469.1:c.1526G>T	NP_001365398.1:p.Trp509Leu
NM_001378470.1:c.1490G>T	NP_001365399.1:p.Trp497Leu
NM_001378471.1:c.1481G>T	NP_001365400.1:p.Trp494Leu
NM_001378472.1:c.1436G>T	NP_001365401.1:p.Trp479Leu
NM_001378473.1:c.1436G>T	NP_001365402.1:p.Trp479Leu
NM_001378474.1:c.1592G>T	NP_001365403.1:p.Trp531Leu
NM_001378475.1:c.1328G>T	NP_001365404.1:p.Trp443Leu