Canonical Allele Identifier: CA2685243956

Gene: BRAF

Linked Data

• gnomAD v4: 7-140800120-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140800120C>T , CM000669.2:g.140800120C>T	GRCh38
NC_000007.13:g.140499920C>T , CM000669.1:g.140499920C>T	GRCh37
NC_000007.12:g.140146389C>T	NCBI36
NG_007873.3:g.129645G>A , LRG_299:g.129645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.980+242G>A MANE Select	ENSP00000493543.1:n.980+242G>A
ENST00000288602.11:c.980+242G>A	ENSP00000288602.7:n.980+242G>A
ENST00000496384.7:c.980+242G>A	ENSP00000419060.2:n.980+242G>A
ENST00000497784.2:c.*430+242G>A	ENSP00000420119.2:n.*430+242G>A
ENST00000642228.1:c.*58+242G>A	ENSP00000493678.1:n.*58+242G>A
ENST00000642272.1:n.1254G>A
ENST00000642875.1:n.474+242G>A
ENST00000644120.1:n.1422+242G>A
ENST00000644650.1:c.76+242G>A
ENST00000644905.1:n.1069+242G>A
ENST00000644969.2:c.980+242G>A MANE Plus Clinical	ENSP00000496776.1:n.980+242G>A
ENST00000646730.1:c.980+242G>A	ENSP00000494784.1:n.980+242G>A
ENST00000646891.1:c.980+242G>A	ENSP00000493543.1:n.980+242G>A
ENST00000647434.1:c.23+242G>A	ENSP00000495132.1:n.23+242G>A
ENST00000288602.10:c.980+242G>A	ENSP00000288602.6:n.980+242G>A
ENST00000497784.1:c.1015+242G>A	ENSP00000420119.1:n.1015+242G>A
NM_004333.4:c.980+242G>A , LRG_299t1:c.980+242G>A	NP_004324.2:n.980+242G>A
XM_005250045.1:c.980+242G>A	XP_005250102.1:n.980+242G>A
XM_005250046.1:c.980+242G>A	XP_005250103.1:n.980+242G>A
XM_011516529.1:c.980+242G>A	XP_011514831.1:n.980+242G>A
XM_011516530.1:c.980+242G>A	XP_011514832.1:n.980+242G>A
XR_242190.1:n.988+242G>A
XR_927520.1:n.988+242G>A
XR_927521.1:n.988+242G>A
XR_927522.1:n.988+242G>A
XR_927523.1:n.988+242G>A
NM_001354609.1:c.980+242G>A	NP_001341538.1:n.980+242G>A
NM_004333.5:c.980+242G>A	NP_004324.2:n.980+242G>A
NR_148928.1:n.1285+242G>A
XM_017012558.1:c.980+242G>A	XP_016868047.1:n.980+242G>A
XM_017012559.1:c.980+242G>A	XP_016868048.1:n.980+242G>A
XR_001744857.1:n.988+242G>A
XR_001744858.1:n.988+242G>A
NM_001354609.2:c.980+242G>A	NP_001341538.1:n.980+242G>A
NM_001374244.1:c.980+242G>A	NP_001361173.1:n.980+242G>A
NM_001374258.1:c.980+242G>A MANE Plus Clinical	NP_001361187.1:n.980+242G>A
NM_004333.6:c.980+242G>A MANE Select	NP_004324.2:n.980+242G>A
NM_001378467.1:c.989+242G>A	NP_001365396.1:n.989+242G>A
NM_001378468.1:c.980+242G>A	NP_001365397.1:n.980+242G>A
NM_001378469.1:c.980+242G>A	NP_001365398.1:n.980+242G>A
NM_001378470.1:c.878+242G>A	NP_001365399.1:n.878+242G>A
NM_001378471.1:c.980+242G>A	NP_001365400.1:n.980+242G>A
NM_001378472.1:c.824+242G>A	NP_001365401.1:n.824+242G>A
NM_001378473.1:c.824+242G>A	NP_001365402.1:n.824+242G>A
NM_001378474.1:c.980+242G>A	NP_001365403.1:n.980+242G>A
NM_001378475.1:c.716+242G>A	NP_001365404.1:n.716+242G>A