Canonical Allele Identifier: CA369588289

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018570
• COSMIC: COSM6475282
• MyVariant Identifiers: chr7:g.140476866G>T (hg19) ; chr7:g.140777066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777066G>T , CM000669.2:g.140777066G>T	GRCh38
NC_000007.13:g.140476866G>T , CM000669.1:g.140476866G>T	GRCh37
NC_000007.12:g.140123335G>T	NCBI36
NG_007873.3:g.152699C>A , LRG_299:g.152699C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1540C>A MANE Select	ENSP00000493543.1:p.Leu514Ile
ENST00000288602.11:c.1660C>A	ENSP00000288602.7:p.Leu554Ile
ENST00000479537.6:c.210C>A
ENST00000496384.7:c.1540C>A	ENSP00000419060.2:p.Leu514Ile
ENST00000497784.2:c.*990C>A	ENSP00000420119.2:n.*990C>A
ENST00000642228.1:c.*618C>A	ENSP00000493678.1:n.*618C>A
ENST00000642875.1:n.1104C>A
ENST00000644120.1:n.1930C>A
ENST00000644650.1:c.636C>A
ENST00000644905.1:n.1629C>A
ENST00000644969.2:c.1660C>A MANE Plus Clinical	ENSP00000496776.1:p.Leu554Ile
ENST00000646730.1:c.1540C>A	ENSP00000494784.1:p.Leu514Ile
ENST00000646891.1:c.1540C>A	ENSP00000493543.1:p.Leu514Ile
ENST00000647434.1:c.583C>A	ENSP00000495132.1:p.Leu195Ile
ENST00000288602.10:c.1540C>A	ENSP00000288602.6:p.Leu514Ile
ENST00000496384.6:c.363C>A
ENST00000497784.1:c.1575C>A	ENSP00000420119.1:n.1575C>A
NM_004333.4:c.1540C>A , LRG_299t1:c.1540C>A	NP_004324.2:p.Leu514Ile
XM_005250045.1:c.1540C>A	XP_005250102.1:p.Leu514Ile
XM_005250046.1:c.1540C>A	XP_005250103.1:p.Leu514Ile
XM_011516529.1:c.1540C>A	XP_011514831.1:p.Leu514Ile
XM_011516530.1:c.1540C>A	XP_011514832.1:p.Leu514Ile
XR_242190.1:n.1548C>A
XR_927520.1:n.1548C>A
XR_927521.1:n.1548C>A
XR_927522.1:n.1548C>A
XR_927523.1:n.1548C>A
NM_001354609.1:c.1540C>A	NP_001341538.1:p.Leu514Ile
NM_004333.5:c.1540C>A	NP_004324.2:p.Leu514Ile
NR_148928.1:n.1845C>A
XM_017012558.1:c.1660C>A	XP_016868047.1:p.Leu554Ile
XM_017012559.1:c.1660C>A	XP_016868048.1:p.Leu554Ile
XR_001744857.1:n.1668C>A
XR_001744858.1:n.1668C>A
NM_001354609.2:c.1540C>A	NP_001341538.1:p.Leu514Ile
NM_001374244.1:c.1660C>A	NP_001361173.1:p.Leu554Ile
NM_001374258.1:c.1660C>A MANE Plus Clinical	NP_001361187.1:p.Leu554Ile
NM_004333.6:c.1540C>A MANE Select	NP_004324.2:p.Leu514Ile
NM_001378467.1:c.1549C>A	NP_001365396.1:p.Leu517Ile
NM_001378468.1:c.1540C>A	NP_001365397.1:p.Leu514Ile
NM_001378469.1:c.1474C>A	NP_001365398.1:p.Leu492Ile
NM_001378470.1:c.1438C>A	NP_001365399.1:p.Leu480Ile
NM_001378471.1:c.1429C>A	NP_001365400.1:p.Leu477Ile
NM_001378472.1:c.1384C>A	NP_001365401.1:p.Leu462Ile
NM_001378473.1:c.1384C>A	NP_001365402.1:p.Leu462Ile
NM_001378474.1:c.1540C>A	NP_001365403.1:p.Leu514Ile
NM_001378475.1:c.1276C>A	NP_001365404.1:p.Leu426Ile