Canonical Allele Identifier: CA369589017

Gene: BRAF

Linked Data

• dbSNP Id: rs2129023901
• gnomAD v4: 7-140781671-G-A
• MyVariant Identifiers: chr7:g.140481471G>A (hg19) ; chr7:g.140781671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781671G>A , CM000669.2:g.140781671G>A	GRCh38
NC_000007.13:g.140481471G>A , CM000669.1:g.140481471G>A	GRCh37
NC_000007.12:g.140127940G>A	NCBI36
NG_007873.3:g.148094C>T , LRG_299:g.148094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1337C>T MANE Select	ENSP00000493543.1:p.Ser446Leu
ENST00000288602.11:c.1457C>T	ENSP00000288602.7:p.Ser486Leu
ENST00000479537.6:c.7C>T
ENST00000496384.7:c.1337C>T	ENSP00000419060.2:p.Ser446Leu
ENST00000497784.2:c.*787C>T	ENSP00000420119.2:n.*787C>T
ENST00000642228.1:c.*415C>T	ENSP00000493678.1:n.*415C>T
ENST00000642875.1:n.779C>T
ENST00000644120.1:n.1727C>T
ENST00000644650.1:c.433C>T
ENST00000644905.1:n.1426C>T
ENST00000644969.2:c.1457C>T MANE Plus Clinical	ENSP00000496776.1:p.Ser486Leu
ENST00000646334.1:n.467C>T
ENST00000646730.1:c.1337C>T	ENSP00000494784.1:p.Ser446Leu
ENST00000646891.1:c.1337C>T	ENSP00000493543.1:p.Ser446Leu
ENST00000647434.1:c.380C>T	ENSP00000495132.1:p.Ser127Leu
ENST00000288602.10:c.1337C>T	ENSP00000288602.6:p.Ser446Leu
ENST00000496384.6:c.160C>T
ENST00000497784.1:c.1372C>T	ENSP00000420119.1:n.1372C>T
NM_004333.4:c.1337C>T , LRG_299t1:c.1337C>T	NP_004324.2:p.Ser446Leu
XM_005250045.1:c.1337C>T	XP_005250102.1:p.Ser446Leu
XM_005250046.1:c.1337C>T	XP_005250103.1:p.Ser446Leu
XM_011516529.1:c.1337C>T	XP_011514831.1:p.Ser446Leu
XM_011516530.1:c.1337C>T	XP_011514832.1:p.Ser446Leu
XR_242190.1:n.1345C>T
XR_927520.1:n.1345C>T
XR_927521.1:n.1345C>T
XR_927522.1:n.1345C>T
XR_927523.1:n.1345C>T
NM_001354609.1:c.1337C>T	NP_001341538.1:p.Ser446Leu
NM_004333.5:c.1337C>T	NP_004324.2:p.Ser446Leu
NR_148928.1:n.1642C>T
XM_017012558.1:c.1457C>T	XP_016868047.1:p.Ser486Leu
XM_017012559.1:c.1457C>T	XP_016868048.1:p.Ser486Leu
XR_001744857.1:n.1465C>T
XR_001744858.1:n.1465C>T
NM_001354609.2:c.1337C>T	NP_001341538.1:p.Ser446Leu
NM_001374244.1:c.1457C>T	NP_001361173.1:p.Ser486Leu
NM_001374258.1:c.1457C>T MANE Plus Clinical	NP_001361187.1:p.Ser486Leu
NM_004333.6:c.1337C>T MANE Select	NP_004324.2:p.Ser446Leu
NM_001378467.1:c.1346C>T	NP_001365396.1:p.Ser449Leu
NM_001378468.1:c.1337C>T	NP_001365397.1:p.Ser446Leu
NM_001378469.1:c.1271C>T	NP_001365398.1:p.Ser424Leu
NM_001378470.1:c.1235C>T	NP_001365399.1:p.Ser412Leu
NM_001378471.1:c.1226C>T	NP_001365400.1:p.Ser409Leu
NM_001378472.1:c.1181C>T	NP_001365401.1:p.Ser394Leu
NM_001378473.1:c.1181C>T	NP_001365402.1:p.Ser394Leu
NM_001378474.1:c.1337C>T	NP_001365403.1:p.Ser446Leu
NM_001378475.1:c.1073C>T	NP_001365404.1:p.Ser358Leu