Canonical Allele Identifier: CA369541047

Gene: BRAF

Linked Data

• dbSNP Id: rs1585998247
• COSMIC: COSM48260
• MyVariant Identifiers: chr7:g.140449173G>C (hg19) ; chr7:g.140749373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140749373G>C , CM000669.2:g.140749373G>C	GRCh38
NC_000007.13:g.140449173G>C , CM000669.1:g.140449173G>C	GRCh37
NC_000007.12:g.140095642G>C	NCBI36
NG_007873.3:g.180392C>G , LRG_299:g.180392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1906C>G MANE Select	ENSP00000493543.1:p.Gln636Glu
ENST00000288602.11:c.2026C>G	ENSP00000288602.7:p.Gln676Glu
ENST00000479537.6:c.576C>G
ENST00000496384.7:c.1906C>G	ENSP00000419060.2:p.Gln636Glu
ENST00000497784.2:c.*1356C>G	ENSP00000420119.2:n.*1356C>G
ENST00000642228.1:c.*984C>G	ENSP00000493678.1:n.*984C>G
ENST00000642875.1:n.1304C>G
ENST00000644120.1:n.2296C>G
ENST00000644650.1:c.1002C>G
ENST00000644905.1:n.2788C>G
ENST00000644969.2:c.2026C>G MANE Plus Clinical	ENSP00000496776.1:p.Gln676Glu
ENST00000646730.1:c.*482C>G	ENSP00000494784.1:n.*482C>G
ENST00000646891.1:c.1906C>G	ENSP00000493543.1:p.Gln636Glu
ENST00000647434.1:c.783C>G	ENSP00000495132.1:p.Phe261Leu
ENST00000288602.10:c.1906C>G	ENSP00000288602.6:p.Gln636Glu
ENST00000479537.5:c.190C>G	ENSP00000418033.1:p.Gln64Glu
ENST00000496384.6:c.729C>G
ENST00000497784.1:c.1941C>G	ENSP00000420119.1:n.1941C>G
NM_004333.4:c.1906C>G , LRG_299t1:c.1906C>G	NP_004324.2:p.Gln636Glu
XM_005250045.1:c.1906C>G	XP_005250102.1:p.Gln636Glu
XM_005250046.1:c.1906C>G	XP_005250103.1:p.Gln636Glu
XM_011516529.1:c.1906C>G	XP_011514831.1:p.Gln636Glu
XM_011516530.1:c.1740C>G	XP_011514832.1:p.Phe580Leu
XR_242190.1:n.1914C>G
XR_927520.1:n.1914C>G
XR_927521.1:n.1914C>G
XR_927522.1:n.1748C>G
XR_927523.1:n.1748C>G
NM_001354609.1:c.1906C>G	NP_001341538.1:p.Gln636Glu
NM_004333.5:c.1906C>G	NP_004324.2:p.Gln636Glu
NR_148928.1:n.3004C>G
XM_017012558.1:c.2026C>G	XP_016868047.1:p.Gln676Glu
XM_017012559.1:c.2026C>G	XP_016868048.1:p.Gln676Glu
XR_001744857.1:n.2034C>G
XR_001744858.1:n.1868C>G
NM_001354609.2:c.1906C>G	NP_001341538.1:p.Gln636Glu
NM_001374244.1:c.2026C>G	NP_001361173.1:p.Gln676Glu
NM_001374258.1:c.2026C>G MANE Plus Clinical	NP_001361187.1:p.Gln676Glu
NM_004333.6:c.1906C>G MANE Select	NP_004324.2:p.Gln636Glu
NM_001378467.1:c.1915C>G	NP_001365396.1:p.Gln639Glu
NM_001378468.1:c.1906C>G	NP_001365397.1:p.Gln636Glu
NM_001378469.1:c.1840C>G	NP_001365398.1:p.Gln614Glu
NM_001378470.1:c.1804C>G	NP_001365399.1:p.Gln602Glu
NM_001378471.1:c.1795C>G	NP_001365400.1:p.Gln599Glu
NM_001378472.1:c.1750C>G	NP_001365401.1:p.Gln584Glu
NM_001378473.1:c.1750C>G	NP_001365402.1:p.Gln584Glu
NM_001378474.1:c.1906C>G	NP_001365403.1:p.Gln636Glu
NM_001378475.1:c.1642C>G	NP_001365404.1:p.Gln548Glu