Canonical Allele Identifier: CA281980

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40375
• ClinVar RCV Id: RCV000033319 ; RCV000824923 ; RCV002513320
• dbSNP Id: rs397507477
• MyVariant Identifiers: chr7:g.140477795G>A (hg19) ; chr7:g.140777995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777995G>A , CM000669.2:g.140777995G>A	GRCh38
NC_000007.13:g.140477795G>A , CM000669.1:g.140477795G>A	GRCh37
NC_000007.12:g.140124264G>A	NCBI36
NG_007873.3:g.151770C>T , LRG_299:g.151770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1513C>T MANE Select	ENSP00000493543.1:p.Leu505Phe
ENST00000288602.11:c.1633C>T	ENSP00000288602.7:p.Leu545Phe
ENST00000479537.6:c.183C>T
ENST00000496384.7:c.1513C>T	ENSP00000419060.2:p.Leu505Phe
ENST00000497784.2:c.*963C>T	ENSP00000420119.2:n.*963C>T
ENST00000642228.1:c.*591C>T	ENSP00000493678.1:n.*591C>T
ENST00000642875.1:n.1077C>T
ENST00000644120.1:n.1903C>T
ENST00000644650.1:c.609C>T
ENST00000644905.1:n.1602C>T
ENST00000644969.2:c.1633C>T MANE Plus Clinical	ENSP00000496776.1:p.Leu545Phe
ENST00000646730.1:c.1513C>T	ENSP00000494784.1:p.Leu505Phe
ENST00000646891.1:c.1513C>T	ENSP00000493543.1:p.Leu505Phe
ENST00000647434.1:c.556C>T	ENSP00000495132.1:p.Leu186Phe
ENST00000288602.10:c.1513C>T	ENSP00000288602.6:p.Leu505Phe
ENST00000496384.6:c.336C>T
ENST00000497784.1:c.1548C>T	ENSP00000420119.1:n.1548C>T
NM_004333.4:c.1513C>T , LRG_299t1:c.1513C>T	NP_004324.2:p.Leu505Phe
XM_005250045.1:c.1513C>T	XP_005250102.1:p.Leu505Phe
XM_005250046.1:c.1513C>T	XP_005250103.1:p.Leu505Phe
XM_011516529.1:c.1513C>T	XP_011514831.1:p.Leu505Phe
XM_011516530.1:c.1513C>T	XP_011514832.1:p.Leu505Phe
XR_242190.1:n.1521C>T
XR_927520.1:n.1521C>T
XR_927521.1:n.1521C>T
XR_927522.1:n.1521C>T
XR_927523.1:n.1521C>T
NM_001354609.1:c.1513C>T	NP_001341538.1:p.Leu505Phe
NM_004333.5:c.1513C>T	NP_004324.2:p.Leu505Phe
NR_148928.1:n.1818C>T
XM_017012558.1:c.1633C>T	XP_016868047.1:p.Leu545Phe
XM_017012559.1:c.1633C>T	XP_016868048.1:p.Leu545Phe
XR_001744857.1:n.1641C>T
XR_001744858.1:n.1641C>T
NM_001354609.2:c.1513C>T	NP_001341538.1:p.Leu505Phe
NM_001374244.1:c.1633C>T	NP_001361173.1:p.Leu545Phe
NM_001374258.1:c.1633C>T MANE Plus Clinical	NP_001361187.1:p.Leu545Phe
NM_004333.6:c.1513C>T MANE Select	NP_004324.2:p.Leu505Phe
NM_001378467.1:c.1522C>T	NP_001365396.1:p.Leu508Phe
NM_001378468.1:c.1513C>T	NP_001365397.1:p.Leu505Phe
NM_001378469.1:c.1447C>T	NP_001365398.1:p.Leu483Phe
NM_001378470.1:c.1411C>T	NP_001365399.1:p.Leu471Phe
NM_001378471.1:c.1402C>T	NP_001365400.1:p.Leu468Phe
NM_001378472.1:c.1357C>T	NP_001365401.1:p.Leu453Phe
NM_001378473.1:c.1357C>T	NP_001365402.1:p.Leu453Phe
NM_001378474.1:c.1513C>T	NP_001365403.1:p.Leu505Phe
NM_001378475.1:c.1249C>T	NP_001365404.1:p.Leu417Phe