Canonical Allele Identifier: CA652159058

Gene: BRAF

Linked Data

• dbSNP Id: rs41282721
• gnomAD v4: 7-140800335-C-A
• COSMIC: COSN5273493

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140800335C>A , CM000669.2:g.140800335C>A	GRCh38
NC_000007.13:g.140500135C>A , CM000669.1:g.140500135C>A	GRCh37
NC_000007.12:g.140146604C>A	NCBI36
NG_007873.3:g.129430G>T , LRG_299:g.129430G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.980+27G>T MANE Select	ENSP00000493543.1:n.980+27G>T
ENST00000288602.11:c.980+27G>T	ENSP00000288602.7:n.980+27G>T
ENST00000496384.7:c.980+27G>T	ENSP00000419060.2:n.980+27G>T
ENST00000497784.2:c.*430+27G>T	ENSP00000420119.2:n.*430+27G>T
ENST00000642228.1:c.*58+27G>T	ENSP00000493678.1:n.*58+27G>T
ENST00000642272.1:n.1039G>T
ENST00000642875.1:n.474+27G>T
ENST00000644120.1:n.1422+27G>T
ENST00000644650.1:c.76+27G>T
ENST00000644905.1:n.1069+27G>T
ENST00000644969.2:c.980+27G>T MANE Plus Clinical	ENSP00000496776.1:n.980+27G>T
ENST00000646730.1:c.980+27G>T	ENSP00000494784.1:n.980+27G>T
ENST00000646891.1:c.980+27G>T	ENSP00000493543.1:n.980+27G>T
ENST00000647434.1:c.23+27G>T	ENSP00000495132.1:n.23+27G>T
ENST00000288602.10:c.980+27G>T	ENSP00000288602.6:n.980+27G>T
ENST00000497784.1:c.1015+27G>T	ENSP00000420119.1:n.1015+27G>T
NM_004333.4:c.980+27G>T , LRG_299t1:c.980+27G>T	NP_004324.2:n.980+27G>T
XM_005250045.1:c.980+27G>T	XP_005250102.1:n.980+27G>T
XM_005250046.1:c.980+27G>T	XP_005250103.1:n.980+27G>T
XM_011516529.1:c.980+27G>T	XP_011514831.1:n.980+27G>T
XM_011516530.1:c.980+27G>T	XP_011514832.1:n.980+27G>T
XR_242190.1:n.988+27G>T
XR_927520.1:n.988+27G>T
XR_927521.1:n.988+27G>T
XR_927522.1:n.988+27G>T
XR_927523.1:n.988+27G>T
NM_001354609.1:c.980+27G>T	NP_001341538.1:n.980+27G>T
NM_004333.5:c.980+27G>T	NP_004324.2:n.980+27G>T
NR_148928.1:n.1285+27G>T
XM_017012558.1:c.980+27G>T	XP_016868047.1:n.980+27G>T
XM_017012559.1:c.980+27G>T	XP_016868048.1:n.980+27G>T
XR_001744857.1:n.988+27G>T
XR_001744858.1:n.988+27G>T
NM_001354609.2:c.980+27G>T	NP_001341538.1:n.980+27G>T
NM_001374244.1:c.980+27G>T	NP_001361173.1:n.980+27G>T
NM_001374258.1:c.980+27G>T MANE Plus Clinical	NP_001361187.1:n.980+27G>T
NM_004333.6:c.980+27G>T MANE Select	NP_004324.2:n.980+27G>T
NM_001378467.1:c.989+27G>T	NP_001365396.1:n.989+27G>T
NM_001378468.1:c.980+27G>T	NP_001365397.1:n.980+27G>T
NM_001378469.1:c.980+27G>T	NP_001365398.1:n.980+27G>T
NM_001378470.1:c.878+27G>T	NP_001365399.1:n.878+27G>T
NM_001378471.1:c.980+27G>T	NP_001365400.1:n.980+27G>T
NM_001378472.1:c.824+27G>T	NP_001365401.1:n.824+27G>T
NM_001378473.1:c.824+27G>T	NP_001365402.1:n.824+27G>T
NM_001378474.1:c.980+27G>T	NP_001365403.1:n.980+27G>T
NM_001378475.1:c.716+27G>T	NP_001365404.1:n.716+27G>T