Canonical Allele Identifier: CA369588215

Gene: BRAF

Linked Data

• dbSNP Id: rs552471935
• MyVariant Identifiers: chr7:g.140476834T>G (hg19) ; chr7:g.140777034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777034T>G , CM000669.2:g.140777034T>G	GRCh38
NC_000007.13:g.140476834T>G , CM000669.1:g.140476834T>G	GRCh37
NC_000007.12:g.140123303T>G	NCBI36
NG_007873.3:g.152731A>C , LRG_299:g.152731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1572A>C MANE Select	ENSP00000493543.1:p.Gln524His
ENST00000288602.11:c.1692A>C	ENSP00000288602.7:p.Gln564His
ENST00000479537.6:c.242A>C
ENST00000496384.7:c.1572A>C	ENSP00000419060.2:p.Gln524His
ENST00000497784.2:c.*1022A>C	ENSP00000420119.2:n.*1022A>C
ENST00000642228.1:c.*650A>C	ENSP00000493678.1:n.*650A>C
ENST00000642875.1:n.1136A>C
ENST00000644120.1:n.1962A>C
ENST00000644650.1:c.668A>C
ENST00000644905.1:n.1661A>C
ENST00000644969.2:c.1692A>C MANE Plus Clinical	ENSP00000496776.1:p.Gln564His
ENST00000646730.1:c.1572A>C	ENSP00000494784.1:p.Gln524His
ENST00000646891.1:c.1572A>C	ENSP00000493543.1:p.Gln524His
ENST00000647434.1:c.615A>C	ENSP00000495132.1:p.Gln205His
ENST00000288602.10:c.1572A>C	ENSP00000288602.6:p.Gln524His
ENST00000496384.6:c.395A>C
ENST00000497784.1:c.1607A>C	ENSP00000420119.1:n.1607A>C
NM_004333.4:c.1572A>C , LRG_299t1:c.1572A>C	NP_004324.2:p.Gln524His
XM_005250045.1:c.1572A>C	XP_005250102.1:p.Gln524His
XM_005250046.1:c.1572A>C	XP_005250103.1:p.Gln524His
XM_011516529.1:c.1572A>C	XP_011514831.1:p.Gln524His
XM_011516530.1:c.1572A>C	XP_011514832.1:p.Gln524His
XR_242190.1:n.1580A>C
XR_927520.1:n.1580A>C
XR_927521.1:n.1580A>C
XR_927522.1:n.1580A>C
XR_927523.1:n.1580A>C
NM_001354609.1:c.1572A>C	NP_001341538.1:p.Gln524His
NM_004333.5:c.1572A>C	NP_004324.2:p.Gln524His
NR_148928.1:n.1877A>C
XM_017012558.1:c.1692A>C	XP_016868047.1:p.Gln564His
XM_017012559.1:c.1692A>C	XP_016868048.1:p.Gln564His
XR_001744857.1:n.1700A>C
XR_001744858.1:n.1700A>C
NM_001354609.2:c.1572A>C	NP_001341538.1:p.Gln524His
NM_001374244.1:c.1692A>C	NP_001361173.1:p.Gln564His
NM_001374258.1:c.1692A>C MANE Plus Clinical	NP_001361187.1:p.Gln564His
NM_004333.6:c.1572A>C MANE Select	NP_004324.2:p.Gln524His
NM_001378467.1:c.1581A>C	NP_001365396.1:p.Gln527His
NM_001378468.1:c.1572A>C	NP_001365397.1:p.Gln524His
NM_001378469.1:c.1506A>C	NP_001365398.1:p.Gln502His
NM_001378470.1:c.1470A>C	NP_001365399.1:p.Gln490His
NM_001378471.1:c.1461A>C	NP_001365400.1:p.Gln487His
NM_001378472.1:c.1416A>C	NP_001365401.1:p.Gln472His
NM_001378473.1:c.1416A>C	NP_001365402.1:p.Gln472His
NM_001378474.1:c.1572A>C	NP_001365403.1:p.Gln524His
NM_001378475.1:c.1308A>C	NP_001365404.1:p.Gln436His