Canonical Allele Identifier: CA4516900

Gene: BRAF

Linked Data

• ClinVar Variation Id: 1321022
• ClinVar RCV Id: RCV001777001 ; RCV003892841
• dbSNP Id: rs373935661
• ExAC: 7:140501360 C / T
• gnomAD v2: 7-140501360-C-T
• gnomAD v3: 7-140801560-C-T
• gnomAD v4: 7-140801560-C-T
• MyVariant Identifiers: chr7:g.140501360C>T (hg19) ; chr7:g.140801560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140801560C>T , CM000669.2:g.140801560C>T	GRCh38
NC_000007.13:g.140501360C>T , CM000669.1:g.140501360C>T	GRCh37
NC_000007.12:g.140147829C>T	NCBI36
NG_007873.3:g.128205G>A , LRG_299:g.128205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.712G>A MANE Select	ENSP00000493543.1:p.Val238Ile
ENST00000288602.11:c.712G>A	ENSP00000288602.7:p.Val238Ile
ENST00000496384.7:c.712G>A	ENSP00000419060.2:p.Val238Ile
ENST00000497784.2:c.*162G>A	ENSP00000420119.2:n.*162G>A
ENST00000642228.1:c.712G>A	ENSP00000493678.1:p.Val238Ile
ENST00000642272.1:n.744G>A
ENST00000642875.1:n.206G>A
ENST00000643356.1:n.313G>A
ENST00000644120.1:n.1154G>A
ENST00000644905.1:n.801G>A
ENST00000644969.2:c.712G>A MANE Plus Clinical	ENSP00000496776.1:p.Val238Ile
ENST00000646730.1:c.712G>A	ENSP00000494784.1:p.Val238Ile
ENST00000646891.1:c.712G>A	ENSP00000493543.1:p.Val238Ile
ENST00000288602.10:c.712G>A	ENSP00000288602.6:p.Val238Ile
ENST00000497784.1:c.747G>A	ENSP00000420119.1:n.747G>A
NM_004333.4:c.712G>A , LRG_299t1:c.712G>A	NP_004324.2:p.Val238Ile
XM_005250045.1:c.712G>A	XP_005250102.1:p.Val238Ile
XM_005250046.1:c.712G>A	XP_005250103.1:p.Val238Ile
XM_011516529.1:c.712G>A	XP_011514831.1:p.Val238Ile
XM_011516530.1:c.712G>A	XP_011514832.1:p.Val238Ile
XR_242190.1:n.720G>A
XR_927520.1:n.720G>A
XR_927521.1:n.720G>A
XR_927522.1:n.720G>A
XR_927523.1:n.720G>A
NM_001354609.1:c.712G>A	NP_001341538.1:p.Val238Ile
NM_004333.5:c.712G>A	NP_004324.2:p.Val238Ile
NR_148928.1:n.1017G>A
XM_017012558.1:c.712G>A	XP_016868047.1:p.Val238Ile
XM_017012559.1:c.712G>A	XP_016868048.1:p.Val238Ile
XR_001744857.1:n.720G>A
XR_001744858.1:n.720G>A
NM_001354609.2:c.712G>A	NP_001341538.1:p.Val238Ile
NM_001374244.1:c.712G>A	NP_001361173.1:p.Val238Ile
NM_001374258.1:c.712G>A MANE Plus Clinical	NP_001361187.1:p.Val238Ile
NM_004333.6:c.712G>A MANE Select	NP_004324.2:p.Val238Ile
NM_001378467.1:c.721G>A	NP_001365396.1:p.Val241Ile
NM_001378468.1:c.712G>A	NP_001365397.1:p.Val238Ile
NM_001378469.1:c.712G>A	NP_001365398.1:p.Val238Ile
NM_001378470.1:c.610G>A	NP_001365399.1:p.Val204Ile
NM_001378471.1:c.712G>A	NP_001365400.1:p.Val238Ile
NM_001378472.1:c.556G>A	NP_001365401.1:p.Val186Ile
NM_001378473.1:c.556G>A	NP_001365402.1:p.Val186Ile
NM_001378474.1:c.712G>A	NP_001365403.1:p.Val238Ile
NM_001378475.1:c.448G>A	NP_001365404.1:p.Val150Ile