Canonical Allele Identifier: CA369588035

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018319
• MyVariant Identifiers: chr7:g.140476777G>C (hg19) ; chr7:g.140776977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776977G>C , CM000669.2:g.140776977G>C	GRCh38
NC_000007.13:g.140476777G>C , CM000669.1:g.140476777G>C	GRCh37
NC_000007.12:g.140123246G>C	NCBI36
NG_007873.3:g.152788C>G , LRG_299:g.152788C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1629C>G MANE Select	ENSP00000493543.1:p.Ile543Met
ENST00000288602.11:c.1749C>G	ENSP00000288602.7:p.Ile583Met
ENST00000479537.6:c.299C>G
ENST00000496384.7:c.1629C>G	ENSP00000419060.2:p.Ile543Met
ENST00000497784.2:c.*1079C>G	ENSP00000420119.2:n.*1079C>G
ENST00000642228.1:c.*707C>G	ENSP00000493678.1:n.*707C>G
ENST00000642875.1:n.1193C>G
ENST00000644120.1:n.2019C>G
ENST00000644650.1:c.725C>G
ENST00000644905.1:n.1718C>G
ENST00000644969.2:c.1749C>G MANE Plus Clinical	ENSP00000496776.1:p.Ile583Met
ENST00000646730.1:c.1629C>G	ENSP00000494784.1:p.Ile543Met
ENST00000646891.1:c.1629C>G	ENSP00000493543.1:p.Ile543Met
ENST00000647434.1:c.672C>G	ENSP00000495132.1:p.Ile224Met
ENST00000288602.10:c.1629C>G	ENSP00000288602.6:p.Ile543Met
ENST00000496384.6:c.452C>G
ENST00000497784.1:c.1664C>G	ENSP00000420119.1:n.1664C>G
NM_004333.4:c.1629C>G , LRG_299t1:c.1629C>G	NP_004324.2:p.Ile543Met
XM_005250045.1:c.1629C>G	XP_005250102.1:p.Ile543Met
XM_005250046.1:c.1629C>G	XP_005250103.1:p.Ile543Met
XM_011516529.1:c.1629C>G	XP_011514831.1:p.Ile543Met
XM_011516530.1:c.1629C>G	XP_011514832.1:p.Ile543Met
XR_242190.1:n.1637C>G
XR_927520.1:n.1637C>G
XR_927521.1:n.1637C>G
XR_927522.1:n.1637C>G
XR_927523.1:n.1637C>G
NM_001354609.1:c.1629C>G	NP_001341538.1:p.Ile543Met
NM_004333.5:c.1629C>G	NP_004324.2:p.Ile543Met
NR_148928.1:n.1934C>G
XM_017012558.1:c.1749C>G	XP_016868047.1:p.Ile583Met
XM_017012559.1:c.1749C>G	XP_016868048.1:p.Ile583Met
XR_001744857.1:n.1757C>G
XR_001744858.1:n.1757C>G
NM_001354609.2:c.1629C>G	NP_001341538.1:p.Ile543Met
NM_001374244.1:c.1749C>G	NP_001361173.1:p.Ile583Met
NM_001374258.1:c.1749C>G MANE Plus Clinical	NP_001361187.1:p.Ile583Met
NM_004333.6:c.1629C>G MANE Select	NP_004324.2:p.Ile543Met
NM_001378467.1:c.1638C>G	NP_001365396.1:p.Ile546Met
NM_001378468.1:c.1629C>G	NP_001365397.1:p.Ile543Met
NM_001378469.1:c.1563C>G	NP_001365398.1:p.Ile521Met
NM_001378470.1:c.1527C>G	NP_001365399.1:p.Ile509Met
NM_001378471.1:c.1518C>G	NP_001365400.1:p.Ile506Met
NM_001378472.1:c.1473C>G	NP_001365401.1:p.Ile491Met
NM_001378473.1:c.1473C>G	NP_001365402.1:p.Ile491Met
NM_001378474.1:c.1629C>G	NP_001365403.1:p.Ile543Met
NM_001378475.1:c.1365C>G	NP_001365404.1:p.Ile455Met