Canonical Allele Identifier: CA280033

Gene: BRAF

Linked Data

• ClinVar Variation Id: 44831
• ClinVar RCV Id: RCV000208128 ; RCV000392102 ; RCV000824915 ; RCV001852795
• dbSNP Id: rs397516904
• MyVariant Identifiers: chr7:g.140501287T>G (hg19) ; chr7:g.140801487T>G (hg38)
• PubMed: PMID:17704260 ; PMID:18042262

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140801487T>G , CM000669.2:g.140801487T>G	GRCh38
NC_000007.13:g.140501287T>G , CM000669.1:g.140501287T>G	GRCh37
NC_000007.12:g.140147756T>G	NCBI36
NG_007873.3:g.128278A>C , LRG_299:g.128278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.785A>C MANE Select	ENSP00000493543.1:p.Gln262Pro
ENST00000288602.11:c.785A>C	ENSP00000288602.7:p.Gln262Pro
ENST00000496384.7:c.785A>C	ENSP00000419060.2:p.Gln262Pro
ENST00000497784.2:c.*235A>C	ENSP00000420119.2:n.*235A>C
ENST00000642228.1:c.785A>C	ENSP00000493678.1:p.Gln262Pro
ENST00000642272.1:n.817A>C
ENST00000642875.1:n.279A>C
ENST00000643356.1:n.386A>C
ENST00000644120.1:n.1227A>C
ENST00000644905.1:n.874A>C
ENST00000644969.2:c.785A>C MANE Plus Clinical	ENSP00000496776.1:p.Gln262Pro
ENST00000646730.1:c.785A>C	ENSP00000494784.1:p.Gln262Pro
ENST00000646891.1:c.785A>C	ENSP00000493543.1:p.Gln262Pro
ENST00000288602.10:c.785A>C	ENSP00000288602.6:p.Gln262Pro
ENST00000497784.1:c.820A>C	ENSP00000420119.1:n.820A>C
NM_004333.4:c.785A>C , LRG_299t1:c.785A>C	NP_004324.2:p.Gln262Pro
XM_005250045.1:c.785A>C	XP_005250102.1:p.Gln262Pro
XM_005250046.1:c.785A>C	XP_005250103.1:p.Gln262Pro
XM_011516529.1:c.785A>C	XP_011514831.1:p.Gln262Pro
XM_011516530.1:c.785A>C	XP_011514832.1:p.Gln262Pro
XR_242190.1:n.793A>C
XR_927520.1:n.793A>C
XR_927521.1:n.793A>C
XR_927522.1:n.793A>C
XR_927523.1:n.793A>C
NM_001354609.1:c.785A>C	NP_001341538.1:p.Gln262Pro
NM_004333.5:c.785A>C	NP_004324.2:p.Gln262Pro
NR_148928.1:n.1090A>C
XM_017012558.1:c.785A>C	XP_016868047.1:p.Gln262Pro
XM_017012559.1:c.785A>C	XP_016868048.1:p.Gln262Pro
XR_001744857.1:n.793A>C
XR_001744858.1:n.793A>C
NM_001354609.2:c.785A>C	NP_001341538.1:p.Gln262Pro
NM_001374244.1:c.785A>C	NP_001361173.1:p.Gln262Pro
NM_001374258.1:c.785A>C MANE Plus Clinical	NP_001361187.1:p.Gln262Pro
NM_004333.6:c.785A>C MANE Select	NP_004324.2:p.Gln262Pro
NM_001378467.1:c.794A>C	NP_001365396.1:p.Gln265Pro
NM_001378468.1:c.785A>C	NP_001365397.1:p.Gln262Pro
NM_001378469.1:c.785A>C	NP_001365398.1:p.Gln262Pro
NM_001378470.1:c.683A>C	NP_001365399.1:p.Gln228Pro
NM_001378471.1:c.785A>C	NP_001365400.1:p.Gln262Pro
NM_001378472.1:c.629A>C	NP_001365401.1:p.Gln210Pro
NM_001378473.1:c.629A>C	NP_001365402.1:p.Gln210Pro
NM_001378474.1:c.785A>C	NP_001365403.1:p.Gln262Pro
NM_001378475.1:c.521A>C	NP_001365404.1:p.Gln174Pro