Canonical Allele Identifier: CA369588960

Gene: BRAF

Linked Data

• gnomAD v4: 7-140781647-T-G
• MyVariant Identifiers: chr7:g.140481447T>G (hg19) ; chr7:g.140781647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140781647T>G , CM000669.2:g.140781647T>G	GRCh38
NC_000007.13:g.140481447T>G , CM000669.1:g.140481447T>G	GRCh37
NC_000007.12:g.140127916T>G	NCBI36
NG_007873.3:g.148118A>C , LRG_299:g.148118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1361A>C MANE Select	ENSP00000493543.1:p.Asp454Ala
ENST00000288602.11:c.1481A>C	ENSP00000288602.7:p.Asp494Ala
ENST00000479537.6:c.31A>C
ENST00000496384.7:c.1361A>C	ENSP00000419060.2:p.Asp454Ala
ENST00000497784.2:c.*811A>C	ENSP00000420119.2:n.*811A>C
ENST00000642228.1:c.*439A>C	ENSP00000493678.1:n.*439A>C
ENST00000642875.1:n.803A>C
ENST00000644120.1:n.1751A>C
ENST00000644650.1:c.457A>C
ENST00000644905.1:n.1450A>C
ENST00000644969.2:c.1481A>C MANE Plus Clinical	ENSP00000496776.1:p.Asp494Ala
ENST00000646334.1:n.491A>C
ENST00000646730.1:c.1361A>C	ENSP00000494784.1:p.Asp454Ala
ENST00000646891.1:c.1361A>C	ENSP00000493543.1:p.Asp454Ala
ENST00000647434.1:c.404A>C	ENSP00000495132.1:p.Asp135Ala
ENST00000288602.10:c.1361A>C	ENSP00000288602.6:p.Asp454Ala
ENST00000496384.6:c.184A>C
ENST00000497784.1:c.1396A>C	ENSP00000420119.1:n.1396A>C
NM_004333.4:c.1361A>C , LRG_299t1:c.1361A>C	NP_004324.2:p.Asp454Ala
XM_005250045.1:c.1361A>C	XP_005250102.1:p.Asp454Ala
XM_005250046.1:c.1361A>C	XP_005250103.1:p.Asp454Ala
XM_011516529.1:c.1361A>C	XP_011514831.1:p.Asp454Ala
XM_011516530.1:c.1361A>C	XP_011514832.1:p.Asp454Ala
XR_242190.1:n.1369A>C
XR_927520.1:n.1369A>C
XR_927521.1:n.1369A>C
XR_927522.1:n.1369A>C
XR_927523.1:n.1369A>C
NM_001354609.1:c.1361A>C	NP_001341538.1:p.Asp454Ala
NM_004333.5:c.1361A>C	NP_004324.2:p.Asp454Ala
NR_148928.1:n.1666A>C
XM_017012558.1:c.1481A>C	XP_016868047.1:p.Asp494Ala
XM_017012559.1:c.1481A>C	XP_016868048.1:p.Asp494Ala
XR_001744857.1:n.1489A>C
XR_001744858.1:n.1489A>C
NM_001354609.2:c.1361A>C	NP_001341538.1:p.Asp454Ala
NM_001374244.1:c.1481A>C	NP_001361173.1:p.Asp494Ala
NM_001374258.1:c.1481A>C MANE Plus Clinical	NP_001361187.1:p.Asp494Ala
NM_004333.6:c.1361A>C MANE Select	NP_004324.2:p.Asp454Ala
NM_001378467.1:c.1370A>C	NP_001365396.1:p.Asp457Ala
NM_001378468.1:c.1361A>C	NP_001365397.1:p.Asp454Ala
NM_001378469.1:c.1295A>C	NP_001365398.1:p.Asp432Ala
NM_001378470.1:c.1259A>C	NP_001365399.1:p.Asp420Ala
NM_001378471.1:c.1250A>C	NP_001365400.1:p.Asp417Ala
NM_001378472.1:c.1205A>C	NP_001365401.1:p.Asp402Ala
NM_001378473.1:c.1205A>C	NP_001365402.1:p.Asp402Ala
NM_001378474.1:c.1361A>C	NP_001365403.1:p.Asp454Ala
NM_001378475.1:c.1097A>C	NP_001365404.1:p.Asp366Ala