Canonical Allele Identifier: CA235367

Gene: BRAF

Linked Data

• ClinVar Variation Id: 180723
• ClinVar RCV Id: RCV000157699 ; RCV000205969
• dbSNP Id: rs397516904
• gnomAD v4: 7-140801487-T-C
• MyVariant Identifiers: chr7:g.140501287T>C (hg19) ; chr7:g.140801487T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.785A>G MANE Select	ENSP00000493543.1:p.Gln262Arg
ENST00000288602.11:c.785A>G	ENSP00000288602.7:p.Gln262Arg
ENST00000496384.7:c.785A>G	ENSP00000419060.2:p.Gln262Arg
ENST00000497784.2:c.*235A>G	ENSP00000420119.2:n.*235A>G
ENST00000642228.1:c.785A>G	ENSP00000493678.1:p.Gln262Arg
ENST00000642272.1:n.817A>G
ENST00000642875.1:n.279A>G
ENST00000643356.1:n.386A>G
ENST00000644120.1:n.1227A>G
ENST00000644905.1:n.874A>G
ENST00000644969.2:c.785A>G MANE Plus Clinical	ENSP00000496776.1:p.Gln262Arg
ENST00000646730.1:c.785A>G	ENSP00000494784.1:p.Gln262Arg
ENST00000646891.1:c.785A>G	ENSP00000493543.1:p.Gln262Arg
ENST00000288602.10:c.785A>G	ENSP00000288602.6:p.Gln262Arg
ENST00000497784.1:c.820A>G	ENSP00000420119.1:n.820A>G
NM_004333.4:c.785A>G , LRG_299t1:c.785A>G	NP_004324.2:p.Gln262Arg
XM_005250045.1:c.785A>G	XP_005250102.1:p.Gln262Arg
XM_005250046.1:c.785A>G	XP_005250103.1:p.Gln262Arg
XM_011516529.1:c.785A>G	XP_011514831.1:p.Gln262Arg
XM_011516530.1:c.785A>G	XP_011514832.1:p.Gln262Arg
XR_242190.1:n.793A>G
XR_927520.1:n.793A>G
XR_927521.1:n.793A>G
XR_927522.1:n.793A>G
XR_927523.1:n.793A>G
NM_001354609.1:c.785A>G	NP_001341538.1:p.Gln262Arg
NM_004333.5:c.785A>G	NP_004324.2:p.Gln262Arg
NR_148928.1:n.1090A>G
XM_017012558.1:c.785A>G	XP_016868047.1:p.Gln262Arg
XM_017012559.1:c.785A>G	XP_016868048.1:p.Gln262Arg
XR_001744857.1:n.793A>G
XR_001744858.1:n.793A>G
NM_001354609.2:c.785A>G	NP_001341538.1:p.Gln262Arg
NM_001374244.1:c.785A>G	NP_001361173.1:p.Gln262Arg
NM_001374258.1:c.785A>G MANE Plus Clinical	NP_001361187.1:p.Gln262Arg
NM_004333.6:c.785A>G MANE Select	NP_004324.2:p.Gln262Arg
NM_001378467.1:c.794A>G	NP_001365396.1:p.Gln265Arg
NM_001378468.1:c.785A>G	NP_001365397.1:p.Gln262Arg
NM_001378469.1:c.785A>G	NP_001365398.1:p.Gln262Arg
NM_001378470.1:c.683A>G	NP_001365399.1:p.Gln228Arg
NM_001378471.1:c.785A>G	NP_001365400.1:p.Gln262Arg
NM_001378472.1:c.629A>G	NP_001365401.1:p.Gln210Arg
NM_001378473.1:c.629A>G	NP_001365402.1:p.Gln210Arg
NM_001378474.1:c.785A>G	NP_001365403.1:p.Gln262Arg
NM_001378475.1:c.521A>G	NP_001365404.1:p.Gln174Arg