Canonical Allele Identifier: CA369543165

Gene: BRAF

Linked Data

• dbSNP Id: rs2128998400
• MyVariant Identifiers: chr7:g.140453158C>A (hg19) ; chr7:g.140753358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753358C>A , CM000669.2:g.140753358C>A	GRCh38
NC_000007.13:g.140453158C>A , CM000669.1:g.140453158C>A	GRCh37
NC_000007.12:g.140099627C>A	NCBI36
NG_007873.3:g.176407G>T , LRG_299:g.176407G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1777G>T MANE Select	ENSP00000493543.1:p.Gly593Cys
ENST00000288602.11:c.1897G>T	ENSP00000288602.7:p.Gly633Cys
ENST00000479537.6:c.447G>T
ENST00000496384.7:c.1777G>T	ENSP00000419060.2:p.Gly593Cys
ENST00000497784.2:c.*1227G>T	ENSP00000420119.2:n.*1227G>T
ENST00000642228.1:c.*855G>T	ENSP00000493678.1:n.*855G>T
ENST00000642875.1:n.1259-3940G>T
ENST00000644120.1:n.2167G>T
ENST00000644650.1:c.873G>T
ENST00000644905.1:n.2659G>T
ENST00000644969.2:c.1897G>T MANE Plus Clinical	ENSP00000496776.1:p.Gly633Cys
ENST00000646730.1:c.*353G>T	ENSP00000494784.1:n.*353G>T
ENST00000646891.1:c.1777G>T	ENSP00000493543.1:p.Gly593Cys
ENST00000647434.1:c.738-3940G>T	ENSP00000495132.1:n.738-3940G>T
ENST00000288602.10:c.1777G>T	ENSP00000288602.6:p.Gly593Cys
ENST00000479537.5:c.61G>T	ENSP00000418033.1:p.Gly21Cys
ENST00000496384.6:c.600G>T
ENST00000497784.1:c.1812G>T	ENSP00000420119.1:n.1812G>T
NM_004333.4:c.1777G>T , LRG_299t1:c.1777G>T	NP_004324.2:p.Gly593Cys
XM_005250045.1:c.1777G>T	XP_005250102.1:p.Gly593Cys
XM_005250046.1:c.1777G>T	XP_005250103.1:p.Gly593Cys
XM_011516529.1:c.1777G>T	XP_011514831.1:p.Gly593Cys
XM_011516530.1:c.1695-3940G>T	XP_011514832.1:n.1695-3940G>T
XR_242190.1:n.1785G>T
XR_927520.1:n.1785G>T
XR_927521.1:n.1785G>T
XR_927522.1:n.1703-3940G>T
XR_927523.1:n.1703-3940G>T
NM_001354609.1:c.1777G>T	NP_001341538.1:p.Gly593Cys
NM_004333.5:c.1777G>T	NP_004324.2:p.Gly593Cys
NR_148928.1:n.2875G>T
XM_017012558.1:c.1897G>T	XP_016868047.1:p.Gly633Cys
XM_017012559.1:c.1897G>T	XP_016868048.1:p.Gly633Cys
XR_001744857.1:n.1905G>T
XR_001744858.1:n.1823-3940G>T
NM_001354609.2:c.1777G>T	NP_001341538.1:p.Gly593Cys
NM_001374244.1:c.1897G>T	NP_001361173.1:p.Gly633Cys
NM_001374258.1:c.1897G>T MANE Plus Clinical	NP_001361187.1:p.Gly633Cys
NM_004333.6:c.1777G>T MANE Select	NP_004324.2:p.Gly593Cys
NM_001378467.1:c.1786G>T	NP_001365396.1:p.Gly596Cys
NM_001378468.1:c.1777G>T	NP_001365397.1:p.Gly593Cys
NM_001378469.1:c.1711G>T	NP_001365398.1:p.Gly571Cys
NM_001378470.1:c.1675G>T	NP_001365399.1:p.Gly559Cys
NM_001378471.1:c.1666G>T	NP_001365400.1:p.Gly556Cys
NM_001378472.1:c.1621G>T	NP_001365401.1:p.Gly541Cys
NM_001378473.1:c.1621G>T	NP_001365402.1:p.Gly541Cys
NM_001378474.1:c.1777G>T	NP_001365403.1:p.Gly593Cys
NM_001378475.1:c.1513G>T	NP_001365404.1:p.Gly505Cys