Canonical Allele Identifier: CA369543331

Gene: BRAF

Linked Data

• ClinVar Variation Id: 802374
• ClinVar RCV Id: RCV000987984 ; RCV002280145
• dbSNP Id: rs1586015221
• COSMIC: COSM28010
• MyVariant Identifiers: chr7:g.140453185G>A (hg19) ; chr7:g.140753385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753385G>A , CM000669.2:g.140753385G>A	GRCh38
NC_000007.13:g.140453185G>A , CM000669.1:g.140453185G>A	GRCh37
NC_000007.12:g.140099654G>A	NCBI36
NG_007873.3:g.176380C>T , LRG_299:g.176380C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1750C>T MANE Select	ENSP00000493543.1:p.Leu584Phe
ENST00000288602.11:c.1870C>T	ENSP00000288602.7:p.Leu624Phe
ENST00000479537.6:c.420C>T
ENST00000496384.7:c.1750C>T	ENSP00000419060.2:p.Leu584Phe
ENST00000497784.2:c.*1200C>T	ENSP00000420119.2:n.*1200C>T
ENST00000642228.1:c.*828C>T	ENSP00000493678.1:n.*828C>T
ENST00000642875.1:n.1259-3967C>T
ENST00000644120.1:n.2140C>T
ENST00000644650.1:c.846C>T
ENST00000644905.1:n.2632C>T
ENST00000644969.2:c.1870C>T MANE Plus Clinical	ENSP00000496776.1:p.Leu624Phe
ENST00000646730.1:c.*326C>T	ENSP00000494784.1:n.*326C>T
ENST00000646891.1:c.1750C>T	ENSP00000493543.1:p.Leu584Phe
ENST00000647434.1:c.738-3967C>T	ENSP00000495132.1:n.738-3967C>T
ENST00000288602.10:c.1750C>T	ENSP00000288602.6:p.Leu584Phe
ENST00000479537.5:c.34C>T	ENSP00000418033.1:p.Leu12Phe
ENST00000496384.6:c.573C>T
ENST00000497784.1:c.1785C>T	ENSP00000420119.1:n.1785C>T
NM_004333.4:c.1750C>T , LRG_299t1:c.1750C>T	NP_004324.2:p.Leu584Phe
XM_005250045.1:c.1750C>T	XP_005250102.1:p.Leu584Phe
XM_005250046.1:c.1750C>T	XP_005250103.1:p.Leu584Phe
XM_011516529.1:c.1750C>T	XP_011514831.1:p.Leu584Phe
XM_011516530.1:c.1695-3967C>T	XP_011514832.1:n.1695-3967C>T
XR_242190.1:n.1758C>T
XR_927520.1:n.1758C>T
XR_927521.1:n.1758C>T
XR_927522.1:n.1703-3967C>T
XR_927523.1:n.1703-3967C>T
NM_001354609.1:c.1750C>T	NP_001341538.1:p.Leu584Phe
NM_004333.5:c.1750C>T	NP_004324.2:p.Leu584Phe
NR_148928.1:n.2848C>T
XM_017012558.1:c.1870C>T	XP_016868047.1:p.Leu624Phe
XM_017012559.1:c.1870C>T	XP_016868048.1:p.Leu624Phe
XR_001744857.1:n.1878C>T
XR_001744858.1:n.1823-3967C>T
NM_001354609.2:c.1750C>T	NP_001341538.1:p.Leu584Phe
NM_001374244.1:c.1870C>T	NP_001361173.1:p.Leu624Phe
NM_001374258.1:c.1870C>T MANE Plus Clinical	NP_001361187.1:p.Leu624Phe
NM_004333.6:c.1750C>T MANE Select	NP_004324.2:p.Leu584Phe
NM_001378467.1:c.1759C>T	NP_001365396.1:p.Leu587Phe
NM_001378468.1:c.1750C>T	NP_001365397.1:p.Leu584Phe
NM_001378469.1:c.1684C>T	NP_001365398.1:p.Leu562Phe
NM_001378470.1:c.1648C>T	NP_001365399.1:p.Leu550Phe
NM_001378471.1:c.1639C>T	NP_001365400.1:p.Leu547Phe
NM_001378472.1:c.1594C>T	NP_001365401.1:p.Leu532Phe
NM_001378473.1:c.1594C>T	NP_001365402.1:p.Leu532Phe
NM_001378474.1:c.1750C>T	NP_001365403.1:p.Leu584Phe
NM_001378475.1:c.1486C>T	NP_001365404.1:p.Leu496Phe