Canonical Allele Identifier: CA280029

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40348
• ClinVar RCV Id: RCV000033284 ; RCV000055897 ; RCV000037957 ; RCV000688777 ; RCV000788012 ; RCV002273939
• dbSNP Id: rs397507466
• MyVariant Identifiers: chr7:g.140501337T>A (hg19) ; chr7:g.140801537T>A (hg38)
• ERepo: CA280029/MONDO:0021060/004
• PubMed: PMID:19206169 ; PMID:19416762 ; PMID:20301557

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140801537T>A , CM000669.2:g.140801537T>A	GRCh38
NC_000007.13:g.140501337T>A , CM000669.1:g.140501337T>A	GRCh37
NC_000007.12:g.140147806T>A	NCBI36
NG_007873.3:g.128228A>T , LRG_299:g.128228A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.735A>T MANE Select	ENSP00000493543.1:p.Leu245Phe
ENST00000288602.11:c.735A>T	ENSP00000288602.7:p.Leu245Phe
ENST00000496384.7:c.735A>T	ENSP00000419060.2:p.Leu245Phe
ENST00000497784.2:c.*185A>T	ENSP00000420119.2:n.*185A>T
ENST00000642228.1:c.735A>T	ENSP00000493678.1:p.Leu245Phe
ENST00000642272.1:n.767A>T
ENST00000642875.1:n.229A>T
ENST00000643356.1:n.336A>T
ENST00000644120.1:n.1177A>T
ENST00000644905.1:n.824A>T
ENST00000644969.2:c.735A>T MANE Plus Clinical	ENSP00000496776.1:p.Leu245Phe
ENST00000646730.1:c.735A>T	ENSP00000494784.1:p.Leu245Phe
ENST00000646891.1:c.735A>T	ENSP00000493543.1:p.Leu245Phe
ENST00000288602.10:c.735A>T	ENSP00000288602.6:p.Leu245Phe
ENST00000497784.1:c.770A>T	ENSP00000420119.1:n.770A>T
NM_004333.4:c.735A>T , LRG_299t1:c.735A>T	NP_004324.2:p.Leu245Phe
XM_005250045.1:c.735A>T	XP_005250102.1:p.Leu245Phe
XM_005250046.1:c.735A>T	XP_005250103.1:p.Leu245Phe
XM_011516529.1:c.735A>T	XP_011514831.1:p.Leu245Phe
XM_011516530.1:c.735A>T	XP_011514832.1:p.Leu245Phe
XR_242190.1:n.743A>T
XR_927520.1:n.743A>T
XR_927521.1:n.743A>T
XR_927522.1:n.743A>T
XR_927523.1:n.743A>T
NM_001354609.1:c.735A>T	NP_001341538.1:p.Leu245Phe
NM_004333.5:c.735A>T	NP_004324.2:p.Leu245Phe
NR_148928.1:n.1040A>T
XM_017012558.1:c.735A>T	XP_016868047.1:p.Leu245Phe
XM_017012559.1:c.735A>T	XP_016868048.1:p.Leu245Phe
XR_001744857.1:n.743A>T
XR_001744858.1:n.743A>T
NM_001354609.2:c.735A>T	NP_001341538.1:p.Leu245Phe
NM_001374244.1:c.735A>T	NP_001361173.1:p.Leu245Phe
NM_001374258.1:c.735A>T MANE Plus Clinical	NP_001361187.1:p.Leu245Phe
NM_004333.6:c.735A>T MANE Select	NP_004324.2:p.Leu245Phe
NM_001378467.1:c.744A>T	NP_001365396.1:p.Leu248Phe
NM_001378468.1:c.735A>T	NP_001365397.1:p.Leu245Phe
NM_001378469.1:c.735A>T	NP_001365398.1:p.Leu245Phe
NM_001378470.1:c.633A>T	NP_001365399.1:p.Leu211Phe
NM_001378471.1:c.735A>T	NP_001365400.1:p.Leu245Phe
NM_001378472.1:c.579A>T	NP_001365401.1:p.Leu193Phe
NM_001378473.1:c.579A>T	NP_001365402.1:p.Leu193Phe
NM_001378474.1:c.735A>T	NP_001365403.1:p.Leu245Phe
NM_001378475.1:c.471A>T	NP_001365404.1:p.Leu157Phe