Canonical Allele Identifier: CA369587873

Gene: BRAF

Linked Data

• ClinVar Variation Id: 1060771
• ClinVar RCV Id: RCV001370243
• dbSNP Id: rs2129018241
• MyVariant Identifiers: chr7:g.140476744T>C (hg19) ; chr7:g.140776944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140776944T>C , CM000669.2:g.140776944T>C	GRCh38
NC_000007.13:g.140476744T>C , CM000669.1:g.140476744T>C	GRCh37
NC_000007.12:g.140123213T>C	NCBI36
NG_007873.3:g.152821A>G , LRG_299:g.152821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1662A>G MANE Select	ENSP00000493543.1:p.Ile554Met
ENST00000288602.11:c.1782A>G	ENSP00000288602.7:p.Ile594Met
ENST00000479537.6:c.332A>G
ENST00000496384.7:c.1662A>G	ENSP00000419060.2:p.Ile554Met
ENST00000497784.2:c.*1112A>G	ENSP00000420119.2:n.*1112A>G
ENST00000642228.1:c.*740A>G	ENSP00000493678.1:n.*740A>G
ENST00000642875.1:n.1226A>G
ENST00000644120.1:n.2052A>G
ENST00000644650.1:c.758A>G
ENST00000644905.1:n.1751A>G
ENST00000644969.2:c.1782A>G MANE Plus Clinical	ENSP00000496776.1:p.Ile594Met
ENST00000646730.1:c.1662A>G	ENSP00000494784.1:p.Ile554Met
ENST00000646891.1:c.1662A>G	ENSP00000493543.1:p.Ile554Met
ENST00000647434.1:c.705A>G	ENSP00000495132.1:p.Ile235Met
ENST00000288602.10:c.1662A>G	ENSP00000288602.6:p.Ile554Met
ENST00000496384.6:c.485A>G
ENST00000497784.1:c.1697A>G	ENSP00000420119.1:n.1697A>G
NM_004333.4:c.1662A>G , LRG_299t1:c.1662A>G	NP_004324.2:p.Ile554Met
XM_005250045.1:c.1662A>G	XP_005250102.1:p.Ile554Met
XM_005250046.1:c.1662A>G	XP_005250103.1:p.Ile554Met
XM_011516529.1:c.1662A>G	XP_011514831.1:p.Ile554Met
XM_011516530.1:c.1662A>G	XP_011514832.1:p.Ile554Met
XR_242190.1:n.1670A>G
XR_927520.1:n.1670A>G
XR_927521.1:n.1670A>G
XR_927522.1:n.1670A>G
XR_927523.1:n.1670A>G
NM_001354609.1:c.1662A>G	NP_001341538.1:p.Ile554Met
NM_004333.5:c.1662A>G	NP_004324.2:p.Ile554Met
NR_148928.1:n.1967A>G
XM_017012558.1:c.1782A>G	XP_016868047.1:p.Ile594Met
XM_017012559.1:c.1782A>G	XP_016868048.1:p.Ile594Met
XR_001744857.1:n.1790A>G
XR_001744858.1:n.1790A>G
NM_001354609.2:c.1662A>G	NP_001341538.1:p.Ile554Met
NM_001374244.1:c.1782A>G	NP_001361173.1:p.Ile594Met
NM_001374258.1:c.1782A>G MANE Plus Clinical	NP_001361187.1:p.Ile594Met
NM_004333.6:c.1662A>G MANE Select	NP_004324.2:p.Ile554Met
NM_001378467.1:c.1671A>G	NP_001365396.1:p.Ile557Met
NM_001378468.1:c.1662A>G	NP_001365397.1:p.Ile554Met
NM_001378469.1:c.1596A>G	NP_001365398.1:p.Ile532Met
NM_001378470.1:c.1560A>G	NP_001365399.1:p.Ile520Met
NM_001378471.1:c.1551A>G	NP_001365400.1:p.Ile517Met
NM_001378472.1:c.1506A>G	NP_001365401.1:p.Ile502Met
NM_001378473.1:c.1506A>G	NP_001365402.1:p.Ile502Met
NM_001378474.1:c.1662A>G	NP_001365403.1:p.Ile554Met
NM_001378475.1:c.1398A>G	NP_001365404.1:p.Ile466Met