Canonical Allele Identifier: CA369541018

Gene: BRAF

Linked Data

• dbSNP Id: rs1456121184
• COSMIC: COSM6419458
• MyVariant Identifiers: chr7:g.140449171C>A (hg19) ; chr7:g.140749371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140749371C>A , CM000669.2:g.140749371C>A	GRCh38
NC_000007.13:g.140449171C>A , CM000669.1:g.140449171C>A	GRCh37
NC_000007.12:g.140095640C>A	NCBI36
NG_007873.3:g.180394G>T , LRG_299:g.180394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1908G>T MANE Select	ENSP00000493543.1:p.Gln636His
ENST00000288602.11:c.2028G>T	ENSP00000288602.7:p.Gln676His
ENST00000479537.6:c.578G>T
ENST00000496384.7:c.1908G>T	ENSP00000419060.2:p.Gln636His
ENST00000497784.2:c.*1358G>T	ENSP00000420119.2:n.*1358G>T
ENST00000642228.1:c.*986G>T	ENSP00000493678.1:n.*986G>T
ENST00000642875.1:n.1306G>T
ENST00000644120.1:n.2298G>T
ENST00000644650.1:c.1004G>T
ENST00000644905.1:n.2790G>T
ENST00000644969.2:c.2028G>T MANE Plus Clinical	ENSP00000496776.1:p.Gln676His
ENST00000646730.1:c.*484G>T	ENSP00000494784.1:n.*484G>T
ENST00000646891.1:c.1908G>T	ENSP00000493543.1:p.Gln636His
ENST00000647434.1:c.785G>T	ENSP00000495132.1:p.Ser262Ile
ENST00000288602.10:c.1908G>T	ENSP00000288602.6:p.Gln636His
ENST00000479537.5:c.192G>T	ENSP00000418033.1:p.Gln64His
ENST00000496384.6:c.731G>T
ENST00000497784.1:c.1943G>T	ENSP00000420119.1:n.1943G>T
NM_004333.4:c.1908G>T , LRG_299t1:c.1908G>T	NP_004324.2:p.Gln636His
XM_005250045.1:c.1908G>T	XP_005250102.1:p.Gln636His
XM_005250046.1:c.1908G>T	XP_005250103.1:p.Gln636His
XM_011516529.1:c.1908G>T	XP_011514831.1:p.Gln636His
XM_011516530.1:c.1742G>T	XP_011514832.1:p.Ser581Ile
XR_242190.1:n.1916G>T
XR_927520.1:n.1916G>T
XR_927521.1:n.1916G>T
XR_927522.1:n.1750G>T
XR_927523.1:n.1750G>T
NM_001354609.1:c.1908G>T	NP_001341538.1:p.Gln636His
NM_004333.5:c.1908G>T	NP_004324.2:p.Gln636His
NR_148928.1:n.3006G>T
XM_017012558.1:c.2028G>T	XP_016868047.1:p.Gln676His
XM_017012559.1:c.2028G>T	XP_016868048.1:p.Gln676His
XR_001744857.1:n.2036G>T
XR_001744858.1:n.1870G>T
NM_001354609.2:c.1908G>T	NP_001341538.1:p.Gln636His
NM_001374244.1:c.2028G>T	NP_001361173.1:p.Gln676His
NM_001374258.1:c.2028G>T MANE Plus Clinical	NP_001361187.1:p.Gln676His
NM_004333.6:c.1908G>T MANE Select	NP_004324.2:p.Gln636His
NM_001378467.1:c.1917G>T	NP_001365396.1:p.Gln639His
NM_001378468.1:c.1908G>T	NP_001365397.1:p.Gln636His
NM_001378469.1:c.1842G>T	NP_001365398.1:p.Gln614His
NM_001378470.1:c.1806G>T	NP_001365399.1:p.Gln602His
NM_001378471.1:c.1797G>T	NP_001365400.1:p.Gln599His
NM_001378472.1:c.1752G>T	NP_001365401.1:p.Gln584His
NM_001378473.1:c.1752G>T	NP_001365402.1:p.Gln584His
NM_001378474.1:c.1908G>T	NP_001365403.1:p.Gln636His
NM_001378475.1:c.1644G>T	NP_001365404.1:p.Gln548His