Canonical Allele Identifier: CA135104

Gene: BRAF

Linked Data

• ClinVar Variation Id: 44816
• ClinVar RCV Id: RCV000037935 ; RCV000435048 ; RCV002463625
• dbSNP Id: rs121913378
• COSMIC: COSM33808
• MyVariant Identifiers: chr7:g.140453137C>A (hg19) ; chr7:g.140753337C>A (hg38)
• PubMed: PMID:15016963 ; PMID:15753399 ; PMID:19404918 ; PMID:21750866 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753337C>A , CM000669.2:g.140753337C>A	GRCh38
NC_000007.13:g.140453137C>A , CM000669.1:g.140453137C>A	GRCh37
NC_000007.12:g.140099606C>A	NCBI36
NG_007873.3:g.176428G>T , LRG_299:g.176428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1798G>T MANE Select	ENSP00000493543.1:p.Val600Leu
ENST00000288602.11:c.1918G>T	ENSP00000288602.7:p.Val640Leu
ENST00000479537.6:c.468G>T
ENST00000496384.7:c.1798G>T	ENSP00000419060.2:p.Val600Leu
ENST00000497784.2:c.*1248G>T	ENSP00000420119.2:n.*1248G>T
ENST00000642228.1:c.*876G>T	ENSP00000493678.1:n.*876G>T
ENST00000642875.1:n.1259-3919G>T
ENST00000644120.1:n.2188G>T
ENST00000644650.1:c.894G>T
ENST00000644905.1:n.2680G>T
ENST00000644969.2:c.1918G>T MANE Plus Clinical	ENSP00000496776.1:p.Val640Leu
ENST00000646730.1:c.*374G>T	ENSP00000494784.1:n.*374G>T
ENST00000646891.1:c.1798G>T	ENSP00000493543.1:p.Val600Leu
ENST00000647434.1:c.738-3919G>T	ENSP00000495132.1:n.738-3919G>T
ENST00000288602.10:c.1798G>T	ENSP00000288602.6:p.Val600Leu
ENST00000479537.5:c.82G>T	ENSP00000418033.1:p.Val28Leu
ENST00000496384.6:c.621G>T
ENST00000497784.1:c.1833G>T	ENSP00000420119.1:n.1833G>T
NM_004333.4:c.1798G>T , LRG_299t1:c.1798G>T	NP_004324.2:p.Val600Leu
XM_005250045.1:c.1798G>T	XP_005250102.1:p.Val600Leu
XM_005250046.1:c.1798G>T	XP_005250103.1:p.Val600Leu
XM_011516529.1:c.1798G>T	XP_011514831.1:p.Val600Leu
XM_011516530.1:c.1695-3919G>T	XP_011514832.1:n.1695-3919G>T
XR_242190.1:n.1806G>T
XR_927520.1:n.1806G>T
XR_927521.1:n.1806G>T
XR_927522.1:n.1703-3919G>T
XR_927523.1:n.1703-3919G>T
NM_001354609.1:c.1798G>T	NP_001341538.1:p.Val600Leu
NM_004333.5:c.1798G>T	NP_004324.2:p.Val600Leu
NR_148928.1:n.2896G>T
XM_017012558.1:c.1918G>T	XP_016868047.1:p.Val640Leu
XM_017012559.1:c.1918G>T	XP_016868048.1:p.Val640Leu
XR_001744857.1:n.1926G>T
XR_001744858.1:n.1823-3919G>T
NM_001354609.2:c.1798G>T	NP_001341538.1:p.Val600Leu
NM_001374244.1:c.1918G>T	NP_001361173.1:p.Val640Leu
NM_001374258.1:c.1918G>T MANE Plus Clinical	NP_001361187.1:p.Val640Leu
NM_004333.6:c.1798G>T MANE Select	NP_004324.2:p.Val600Leu
NM_001378467.1:c.1807G>T	NP_001365396.1:p.Val603Leu
NM_001378468.1:c.1798G>T	NP_001365397.1:p.Val600Leu
NM_001378469.1:c.1732G>T	NP_001365398.1:p.Val578Leu
NM_001378470.1:c.1696G>T	NP_001365399.1:p.Val566Leu
NM_001378471.1:c.1687G>T	NP_001365400.1:p.Val563Leu
NM_001378472.1:c.1642G>T	NP_001365401.1:p.Val548Leu
NM_001378473.1:c.1642G>T	NP_001365402.1:p.Val548Leu
NM_001378474.1:c.1798G>T	NP_001365403.1:p.Val600Leu
NM_001378475.1:c.1534G>T	NP_001365404.1:p.Val512Leu