Canonical Allele Identifier: CA369588981

Gene: BRAF

Linked Data

• dbSNP Id: rs2129023842
• COSMIC: COSM6475287
• MyVariant Identifiers: chr7:g.140481457C>A (hg19) ; chr7:g.140781657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781657C>A , CM000669.2:g.140781657C>A	GRCh38
NC_000007.13:g.140481457C>A , CM000669.1:g.140481457C>A	GRCh37
NC_000007.12:g.140127926C>A	NCBI36
NG_007873.3:g.148108G>T , LRG_299:g.148108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1351G>T MANE Select	ENSP00000493543.1:p.Glu451Ter
ENST00000288602.11:c.1471G>T	ENSP00000288602.7:p.Glu491Ter
ENST00000479537.6:c.21G>T
ENST00000496384.7:c.1351G>T	ENSP00000419060.2:p.Glu451Ter
ENST00000497784.2:c.*801G>T	ENSP00000420119.2:n.*801G>T
ENST00000642228.1:c.*429G>T	ENSP00000493678.1:n.*429G>T
ENST00000642875.1:n.793G>T
ENST00000644120.1:n.1741G>T
ENST00000644650.1:c.447G>T
ENST00000644905.1:n.1440G>T
ENST00000644969.2:c.1471G>T MANE Plus Clinical	ENSP00000496776.1:p.Glu491Ter
ENST00000646334.1:n.481G>T
ENST00000646730.1:c.1351G>T	ENSP00000494784.1:p.Glu451Ter
ENST00000646891.1:c.1351G>T	ENSP00000493543.1:p.Glu451Ter
ENST00000647434.1:c.394G>T	ENSP00000495132.1:p.Glu132Ter
ENST00000288602.10:c.1351G>T	ENSP00000288602.6:p.Glu451Ter
ENST00000496384.6:c.174G>T
ENST00000497784.1:c.1386G>T	ENSP00000420119.1:n.1386G>T
NM_004333.4:c.1351G>T , LRG_299t1:c.1351G>T	NP_004324.2:p.Glu451Ter
XM_005250045.1:c.1351G>T	XP_005250102.1:p.Glu451Ter
XM_005250046.1:c.1351G>T	XP_005250103.1:p.Glu451Ter
XM_011516529.1:c.1351G>T	XP_011514831.1:p.Glu451Ter
XM_011516530.1:c.1351G>T	XP_011514832.1:p.Glu451Ter
XR_242190.1:n.1359G>T
XR_927520.1:n.1359G>T
XR_927521.1:n.1359G>T
XR_927522.1:n.1359G>T
XR_927523.1:n.1359G>T
NM_001354609.1:c.1351G>T	NP_001341538.1:p.Glu451Ter
NM_004333.5:c.1351G>T	NP_004324.2:p.Glu451Ter
NR_148928.1:n.1656G>T
XM_017012558.1:c.1471G>T	XP_016868047.1:p.Glu491Ter
XM_017012559.1:c.1471G>T	XP_016868048.1:p.Glu491Ter
XR_001744857.1:n.1479G>T
XR_001744858.1:n.1479G>T
NM_001354609.2:c.1351G>T	NP_001341538.1:p.Glu451Ter
NM_001374244.1:c.1471G>T	NP_001361173.1:p.Glu491Ter
NM_001374258.1:c.1471G>T MANE Plus Clinical	NP_001361187.1:p.Glu491Ter
NM_004333.6:c.1351G>T MANE Select	NP_004324.2:p.Glu451Ter
NM_001378467.1:c.1360G>T	NP_001365396.1:p.Glu454Ter
NM_001378468.1:c.1351G>T	NP_001365397.1:p.Glu451Ter
NM_001378469.1:c.1285G>T	NP_001365398.1:p.Glu429Ter
NM_001378470.1:c.1249G>T	NP_001365399.1:p.Glu417Ter
NM_001378471.1:c.1240G>T	NP_001365400.1:p.Glu414Ter
NM_001378472.1:c.1195G>T	NP_001365401.1:p.Glu399Ter
NM_001378473.1:c.1195G>T	NP_001365402.1:p.Glu399Ter
NM_001378474.1:c.1351G>T	NP_001365403.1:p.Glu451Ter
NM_001378475.1:c.1087G>T	NP_001365404.1:p.Glu363Ter