Canonical Allele Identifier: CA280025

Gene: BRAF

Linked Data

• ClinVar Variation Id: 40346
• ClinVar RCV Id: RCV000033282 ; RCV000037955 ; RCV000804367
• dbSNP Id: rs397507465
• MyVariant Identifiers: chr7:g.140501342T>G (hg19) ; chr7:g.140801542T>G (hg38)
• PubMed: PMID:17551924 ; PMID:18042262
• ERepo: CA280025/MONDO:0015280/004

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140801542T>G , CM000669.2:g.140801542T>G	GRCh38
NC_000007.13:g.140501342T>G , CM000669.1:g.140501342T>G	GRCh37
NC_000007.12:g.140147811T>G	NCBI36
NG_007873.3:g.128223A>C , LRG_299:g.128223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.730A>C MANE Select	ENSP00000493543.1:p.Thr244Pro
ENST00000288602.11:c.730A>C	ENSP00000288602.7:p.Thr244Pro
ENST00000496384.7:c.730A>C	ENSP00000419060.2:p.Thr244Pro
ENST00000497784.2:c.*180A>C	ENSP00000420119.2:n.*180A>C
ENST00000642228.1:c.730A>C	ENSP00000493678.1:p.Thr244Pro
ENST00000642272.1:n.762A>C
ENST00000642875.1:n.224A>C
ENST00000643356.1:n.331A>C
ENST00000644120.1:n.1172A>C
ENST00000644905.1:n.819A>C
ENST00000644969.2:c.730A>C MANE Plus Clinical	ENSP00000496776.1:p.Thr244Pro
ENST00000646730.1:c.730A>C	ENSP00000494784.1:p.Thr244Pro
ENST00000646891.1:c.730A>C	ENSP00000493543.1:p.Thr244Pro
ENST00000288602.10:c.730A>C	ENSP00000288602.6:p.Thr244Pro
ENST00000497784.1:c.765A>C	ENSP00000420119.1:n.765A>C
NM_004333.4:c.730A>C , LRG_299t1:c.730A>C	NP_004324.2:p.Thr244Pro
XM_005250045.1:c.730A>C	XP_005250102.1:p.Thr244Pro
XM_005250046.1:c.730A>C	XP_005250103.1:p.Thr244Pro
XM_011516529.1:c.730A>C	XP_011514831.1:p.Thr244Pro
XM_011516530.1:c.730A>C	XP_011514832.1:p.Thr244Pro
XR_242190.1:n.738A>C
XR_927520.1:n.738A>C
XR_927521.1:n.738A>C
XR_927522.1:n.738A>C
XR_927523.1:n.738A>C
NM_001354609.1:c.730A>C	NP_001341538.1:p.Thr244Pro
NM_004333.5:c.730A>C	NP_004324.2:p.Thr244Pro
NR_148928.1:n.1035A>C
XM_017012558.1:c.730A>C	XP_016868047.1:p.Thr244Pro
XM_017012559.1:c.730A>C	XP_016868048.1:p.Thr244Pro
XR_001744857.1:n.738A>C
XR_001744858.1:n.738A>C
NM_001354609.2:c.730A>C	NP_001341538.1:p.Thr244Pro
NM_001374244.1:c.730A>C	NP_001361173.1:p.Thr244Pro
NM_001374258.1:c.730A>C MANE Plus Clinical	NP_001361187.1:p.Thr244Pro
NM_004333.6:c.730A>C MANE Select	NP_004324.2:p.Thr244Pro
NM_001378467.1:c.739A>C	NP_001365396.1:p.Thr247Pro
NM_001378468.1:c.730A>C	NP_001365397.1:p.Thr244Pro
NM_001378469.1:c.730A>C	NP_001365398.1:p.Thr244Pro
NM_001378470.1:c.628A>C	NP_001365399.1:p.Thr210Pro
NM_001378471.1:c.730A>C	NP_001365400.1:p.Thr244Pro
NM_001378472.1:c.574A>C	NP_001365401.1:p.Thr192Pro
NM_001378473.1:c.574A>C	NP_001365402.1:p.Thr192Pro
NM_001378474.1:c.730A>C	NP_001365403.1:p.Thr244Pro
NM_001378475.1:c.466A>C	NP_001365404.1:p.Thr156Pro