Canonical Allele Identifier: CA369588975

Gene: BRAF

Linked Data

• ClinVar Variation Id: 2800784
• ClinVar RCV Id: RCV003655605
• MyVariant Identifiers: chr7:g.140481454T>G (hg19) ; chr7:g.140781654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781654T>G , CM000669.2:g.140781654T>G	GRCh38
NC_000007.13:g.140481454T>G , CM000669.1:g.140481454T>G	GRCh37
NC_000007.12:g.140127923T>G	NCBI36
NG_007873.3:g.148111A>C , LRG_299:g.148111A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1354A>C MANE Select	ENSP00000493543.1:p.Ile452Leu
ENST00000288602.11:c.1474A>C	ENSP00000288602.7:p.Ile492Leu
ENST00000479537.6:c.24A>C
ENST00000496384.7:c.1354A>C	ENSP00000419060.2:p.Ile452Leu
ENST00000497784.2:c.*804A>C	ENSP00000420119.2:n.*804A>C
ENST00000642228.1:c.*432A>C	ENSP00000493678.1:n.*432A>C
ENST00000642875.1:n.796A>C
ENST00000644120.1:n.1744A>C
ENST00000644650.1:c.450A>C
ENST00000644905.1:n.1443A>C
ENST00000644969.2:c.1474A>C MANE Plus Clinical	ENSP00000496776.1:p.Ile492Leu
ENST00000646334.1:n.484A>C
ENST00000646730.1:c.1354A>C	ENSP00000494784.1:p.Ile452Leu
ENST00000646891.1:c.1354A>C	ENSP00000493543.1:p.Ile452Leu
ENST00000647434.1:c.397A>C	ENSP00000495132.1:p.Ile133Leu
ENST00000288602.10:c.1354A>C	ENSP00000288602.6:p.Ile452Leu
ENST00000496384.6:c.177A>C
ENST00000497784.1:c.1389A>C	ENSP00000420119.1:n.1389A>C
NM_004333.4:c.1354A>C , LRG_299t1:c.1354A>C	NP_004324.2:p.Ile452Leu
XM_005250045.1:c.1354A>C	XP_005250102.1:p.Ile452Leu
XM_005250046.1:c.1354A>C	XP_005250103.1:p.Ile452Leu
XM_011516529.1:c.1354A>C	XP_011514831.1:p.Ile452Leu
XM_011516530.1:c.1354A>C	XP_011514832.1:p.Ile452Leu
XR_242190.1:n.1362A>C
XR_927520.1:n.1362A>C
XR_927521.1:n.1362A>C
XR_927522.1:n.1362A>C
XR_927523.1:n.1362A>C
NM_001354609.1:c.1354A>C	NP_001341538.1:p.Ile452Leu
NM_004333.5:c.1354A>C	NP_004324.2:p.Ile452Leu
NR_148928.1:n.1659A>C
XM_017012558.1:c.1474A>C	XP_016868047.1:p.Ile492Leu
XM_017012559.1:c.1474A>C	XP_016868048.1:p.Ile492Leu
XR_001744857.1:n.1482A>C
XR_001744858.1:n.1482A>C
NM_001354609.2:c.1354A>C	NP_001341538.1:p.Ile452Leu
NM_001374244.1:c.1474A>C	NP_001361173.1:p.Ile492Leu
NM_001374258.1:c.1474A>C MANE Plus Clinical	NP_001361187.1:p.Ile492Leu
NM_004333.6:c.1354A>C MANE Select	NP_004324.2:p.Ile452Leu
NM_001378467.1:c.1363A>C	NP_001365396.1:p.Ile455Leu
NM_001378468.1:c.1354A>C	NP_001365397.1:p.Ile452Leu
NM_001378469.1:c.1288A>C	NP_001365398.1:p.Ile430Leu
NM_001378470.1:c.1252A>C	NP_001365399.1:p.Ile418Leu
NM_001378471.1:c.1243A>C	NP_001365400.1:p.Ile415Leu
NM_001378472.1:c.1198A>C	NP_001365401.1:p.Ile400Leu
NM_001378473.1:c.1198A>C	NP_001365402.1:p.Ile400Leu
NM_001378474.1:c.1354A>C	NP_001365403.1:p.Ile452Leu
NM_001378475.1:c.1090A>C	NP_001365404.1:p.Ile364Leu