Canonical Allele Identifier: CA369543209

Gene: BRAF

Linked Data

• dbSNP Id: rs2128998413
• MyVariant Identifiers: chr7:g.140453166A>C (hg19) ; chr7:g.140753366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753366A>C , CM000669.2:g.140753366A>C	GRCh38
NC_000007.13:g.140453166A>C , CM000669.1:g.140453166A>C	GRCh37
NC_000007.12:g.140099635A>C	NCBI36
NG_007873.3:g.176399T>G , LRG_299:g.176399T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1769T>G MANE Select	ENSP00000493543.1:p.Val590Gly
ENST00000288602.11:c.1889T>G	ENSP00000288602.7:p.Val630Gly
ENST00000479537.6:c.439T>G
ENST00000496384.7:c.1769T>G	ENSP00000419060.2:p.Val590Gly
ENST00000497784.2:c.*1219T>G	ENSP00000420119.2:n.*1219T>G
ENST00000642228.1:c.*847T>G	ENSP00000493678.1:n.*847T>G
ENST00000642875.1:n.1259-3948T>G
ENST00000644120.1:n.2159T>G
ENST00000644650.1:c.865T>G
ENST00000644905.1:n.2651T>G
ENST00000644969.2:c.1889T>G MANE Plus Clinical	ENSP00000496776.1:p.Val630Gly
ENST00000646730.1:c.*345T>G	ENSP00000494784.1:n.*345T>G
ENST00000646891.1:c.1769T>G	ENSP00000493543.1:p.Val590Gly
ENST00000647434.1:c.738-3948T>G	ENSP00000495132.1:n.738-3948T>G
ENST00000288602.10:c.1769T>G	ENSP00000288602.6:p.Val590Gly
ENST00000479537.5:c.53T>G	ENSP00000418033.1:p.Val18Gly
ENST00000496384.6:c.592T>G
ENST00000497784.1:c.1804T>G	ENSP00000420119.1:n.1804T>G
NM_004333.4:c.1769T>G , LRG_299t1:c.1769T>G	NP_004324.2:p.Val590Gly
XM_005250045.1:c.1769T>G	XP_005250102.1:p.Val590Gly
XM_005250046.1:c.1769T>G	XP_005250103.1:p.Val590Gly
XM_011516529.1:c.1769T>G	XP_011514831.1:p.Val590Gly
XM_011516530.1:c.1695-3948T>G	XP_011514832.1:n.1695-3948T>G
XR_242190.1:n.1777T>G
XR_927520.1:n.1777T>G
XR_927521.1:n.1777T>G
XR_927522.1:n.1703-3948T>G
XR_927523.1:n.1703-3948T>G
NM_001354609.1:c.1769T>G	NP_001341538.1:p.Val590Gly
NM_004333.5:c.1769T>G	NP_004324.2:p.Val590Gly
NR_148928.1:n.2867T>G
XM_017012558.1:c.1889T>G	XP_016868047.1:p.Val630Gly
XM_017012559.1:c.1889T>G	XP_016868048.1:p.Val630Gly
XR_001744857.1:n.1897T>G
XR_001744858.1:n.1823-3948T>G
NM_001354609.2:c.1769T>G	NP_001341538.1:p.Val590Gly
NM_001374244.1:c.1889T>G	NP_001361173.1:p.Val630Gly
NM_001374258.1:c.1889T>G MANE Plus Clinical	NP_001361187.1:p.Val630Gly
NM_004333.6:c.1769T>G MANE Select	NP_004324.2:p.Val590Gly
NM_001378467.1:c.1778T>G	NP_001365396.1:p.Val593Gly
NM_001378468.1:c.1769T>G	NP_001365397.1:p.Val590Gly
NM_001378469.1:c.1703T>G	NP_001365398.1:p.Val568Gly
NM_001378470.1:c.1667T>G	NP_001365399.1:p.Val556Gly
NM_001378471.1:c.1658T>G	NP_001365400.1:p.Val553Gly
NM_001378472.1:c.1613T>G	NP_001365401.1:p.Val538Gly
NM_001378473.1:c.1613T>G	NP_001365402.1:p.Val538Gly
NM_001378474.1:c.1769T>G	NP_001365403.1:p.Val590Gly
NM_001378475.1:c.1505T>G	NP_001365404.1:p.Val502Gly