Canonical Allele Identifier: CA369588039

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018321
• MyVariant Identifiers: chr7:g.140476778A>G (hg19) ; chr7:g.140776978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776978A>G , CM000669.2:g.140776978A>G	GRCh38
NC_000007.13:g.140476778A>G , CM000669.1:g.140476778A>G	GRCh37
NC_000007.12:g.140123247A>G	NCBI36
NG_007873.3:g.152787T>C , LRG_299:g.152787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1628T>C MANE Select	ENSP00000493543.1:p.Ile543Thr
ENST00000288602.11:c.1748T>C	ENSP00000288602.7:p.Ile583Thr
ENST00000479537.6:c.298T>C
ENST00000496384.7:c.1628T>C	ENSP00000419060.2:p.Ile543Thr
ENST00000497784.2:c.*1078T>C	ENSP00000420119.2:n.*1078T>C
ENST00000642228.1:c.*706T>C	ENSP00000493678.1:n.*706T>C
ENST00000642875.1:n.1192T>C
ENST00000644120.1:n.2018T>C
ENST00000644650.1:c.724T>C
ENST00000644905.1:n.1717T>C
ENST00000644969.2:c.1748T>C MANE Plus Clinical	ENSP00000496776.1:p.Ile583Thr
ENST00000646730.1:c.1628T>C	ENSP00000494784.1:p.Ile543Thr
ENST00000646891.1:c.1628T>C	ENSP00000493543.1:p.Ile543Thr
ENST00000647434.1:c.671T>C	ENSP00000495132.1:p.Ile224Thr
ENST00000288602.10:c.1628T>C	ENSP00000288602.6:p.Ile543Thr
ENST00000496384.6:c.451T>C
ENST00000497784.1:c.1663T>C	ENSP00000420119.1:n.1663T>C
NM_004333.4:c.1628T>C , LRG_299t1:c.1628T>C	NP_004324.2:p.Ile543Thr
XM_005250045.1:c.1628T>C	XP_005250102.1:p.Ile543Thr
XM_005250046.1:c.1628T>C	XP_005250103.1:p.Ile543Thr
XM_011516529.1:c.1628T>C	XP_011514831.1:p.Ile543Thr
XM_011516530.1:c.1628T>C	XP_011514832.1:p.Ile543Thr
XR_242190.1:n.1636T>C
XR_927520.1:n.1636T>C
XR_927521.1:n.1636T>C
XR_927522.1:n.1636T>C
XR_927523.1:n.1636T>C
NM_001354609.1:c.1628T>C	NP_001341538.1:p.Ile543Thr
NM_004333.5:c.1628T>C	NP_004324.2:p.Ile543Thr
NR_148928.1:n.1933T>C
XM_017012558.1:c.1748T>C	XP_016868047.1:p.Ile583Thr
XM_017012559.1:c.1748T>C	XP_016868048.1:p.Ile583Thr
XR_001744857.1:n.1756T>C
XR_001744858.1:n.1756T>C
NM_001354609.2:c.1628T>C	NP_001341538.1:p.Ile543Thr
NM_001374244.1:c.1748T>C	NP_001361173.1:p.Ile583Thr
NM_001374258.1:c.1748T>C MANE Plus Clinical	NP_001361187.1:p.Ile583Thr
NM_004333.6:c.1628T>C MANE Select	NP_004324.2:p.Ile543Thr
NM_001378467.1:c.1637T>C	NP_001365396.1:p.Ile546Thr
NM_001378468.1:c.1628T>C	NP_001365397.1:p.Ile543Thr
NM_001378469.1:c.1562T>C	NP_001365398.1:p.Ile521Thr
NM_001378470.1:c.1526T>C	NP_001365399.1:p.Ile509Thr
NM_001378471.1:c.1517T>C	NP_001365400.1:p.Ile506Thr
NM_001378472.1:c.1472T>C	NP_001365401.1:p.Ile491Thr
NM_001378473.1:c.1472T>C	NP_001365402.1:p.Ile491Thr
NM_001378474.1:c.1628T>C	NP_001365403.1:p.Ile543Thr
NM_001378475.1:c.1364T>C	NP_001365404.1:p.Ile455Thr