Canonical Allele Identifier: CA457986946

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2818265
• ClinVar RCV Id: RCV003655742
• dbSNP Id: rs2128998280
• MyVariant Identifiers: chr7:g.140453135C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753335C>G , CM000669.2:g.140753335C>G	GRCh38
NC_000007.13:g.140453135C>G , CM000669.1:g.140453135C>G	GRCh37
NC_000007.12:g.140099604C>G	NCBI36
NG_007873.3:g.176430G>C , LRG_299:g.176430G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1800G>C MANE Select	ENSP00000493543.1:p.Val600=
ENST00000288602.11:c.1920G>C	ENSP00000288602.7:p.Val640=
ENST00000479537.6:c.470G>C
ENST00000496384.7:c.1800G>C	ENSP00000419060.2:p.Val600=
ENST00000497784.2:c.*1250G>C	ENSP00000420119.2:n.*1250G>C
ENST00000642228.1:c.*878G>C	ENSP00000493678.1:n.*878G>C
ENST00000642875.1:n.1259-3917G>C
ENST00000644120.1:n.2190G>C
ENST00000644650.1:c.896G>C
ENST00000644905.1:n.2682G>C
ENST00000644969.2:c.1920G>C MANE Plus Clinical	ENSP00000496776.1:p.Val640=
ENST00000646730.1:c.*376G>C	ENSP00000494784.1:n.*376G>C
ENST00000646891.1:c.1800G>C	ENSP00000493543.1:p.Val600=
ENST00000647434.1:c.738-3917G>C	ENSP00000495132.1:n.738-3917G>C
ENST00000288602.10:c.1800G>C	ENSP00000288602.6:p.Val600=
ENST00000479537.5:c.84G>C	ENSP00000418033.1:p.Val28=
ENST00000496384.6:c.623G>C
ENST00000497784.1:c.1835G>C	ENSP00000420119.1:n.1835G>C
NM_004333.4:c.1800G>C , LRG_299t1:c.1800G>C	NP_004324.2:p.Val600=
XM_005250045.1:c.1800G>C	XP_005250102.1:p.Val600=
XM_005250046.1:c.1800G>C	XP_005250103.1:p.Val600=
XM_011516529.1:c.1800G>C	XP_011514831.1:p.Val600=
XM_011516530.1:c.1695-3917G>C	XP_011514832.1:n.1695-3917G>C
XR_242190.1:n.1808G>C
XR_927520.1:n.1808G>C
XR_927521.1:n.1808G>C
XR_927522.1:n.1703-3917G>C
XR_927523.1:n.1703-3917G>C
NM_001354609.1:c.1800G>C	NP_001341538.1:p.Val600=
NM_004333.5:c.1800G>C	NP_004324.2:p.Val600=
NR_148928.1:n.2898G>C
XM_017012558.1:c.1920G>C	XP_016868047.1:p.Val640=
XM_017012559.1:c.1920G>C	XP_016868048.1:p.Val640=
XR_001744857.1:n.1928G>C
XR_001744858.1:n.1823-3917G>C
NM_001354609.2:c.1800G>C	NP_001341538.1:p.Val600=
NM_001374244.1:c.1920G>C	NP_001361173.1:p.Val640=
NM_001374258.1:c.1920G>C MANE Plus Clinical	NP_001361187.1:p.Val640=
NM_004333.6:c.1800G>C MANE Select	NP_004324.2:p.Val600=
NM_001378467.1:c.1809G>C	NP_001365396.1:p.Val603=
NM_001378468.1:c.1800G>C	NP_001365397.1:p.Val600=
NM_001378469.1:c.1734G>C	NP_001365398.1:p.Val578=
NM_001378470.1:c.1698G>C	NP_001365399.1:p.Val566=
NM_001378471.1:c.1689G>C	NP_001365400.1:p.Val563=
NM_001378472.1:c.1644G>C	NP_001365401.1:p.Val548=
NM_001378473.1:c.1644G>C	NP_001365402.1:p.Val548=
NM_001378474.1:c.1800G>C	NP_001365403.1:p.Val600=
NM_001378475.1:c.1536G>C	NP_001365404.1:p.Val512=