Canonical Allele Identifier: CA369588206

Gene: BRAF

Linked Data

• dbSNP Id: rs2129018454
• COSMIC: COSM5347006
• MyVariant Identifiers: chr7:g.140476829G>A (hg19) ; chr7:g.140777029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140777029G>A , CM000669.2:g.140777029G>A	GRCh38
NC_000007.13:g.140476829G>A , CM000669.1:g.140476829G>A	GRCh37
NC_000007.12:g.140123298G>A	NCBI36
NG_007873.3:g.152736C>T , LRG_299:g.152736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1577C>T MANE Select	ENSP00000493543.1:p.Ala526Val
ENST00000288602.11:c.1697C>T	ENSP00000288602.7:p.Ala566Val
ENST00000479537.6:c.247C>T
ENST00000496384.7:c.1577C>T	ENSP00000419060.2:p.Ala526Val
ENST00000497784.2:c.*1027C>T	ENSP00000420119.2:n.*1027C>T
ENST00000642228.1:c.*655C>T	ENSP00000493678.1:n.*655C>T
ENST00000642875.1:n.1141C>T
ENST00000644120.1:n.1967C>T
ENST00000644650.1:c.673C>T
ENST00000644905.1:n.1666C>T
ENST00000644969.2:c.1697C>T MANE Plus Clinical	ENSP00000496776.1:p.Ala566Val
ENST00000646730.1:c.1577C>T	ENSP00000494784.1:p.Ala526Val
ENST00000646891.1:c.1577C>T	ENSP00000493543.1:p.Ala526Val
ENST00000647434.1:c.620C>T	ENSP00000495132.1:p.Ala207Val
ENST00000288602.10:c.1577C>T	ENSP00000288602.6:p.Ala526Val
ENST00000496384.6:c.400C>T
ENST00000497784.1:c.1612C>T	ENSP00000420119.1:n.1612C>T
NM_004333.4:c.1577C>T , LRG_299t1:c.1577C>T	NP_004324.2:p.Ala526Val
XM_005250045.1:c.1577C>T	XP_005250102.1:p.Ala526Val
XM_005250046.1:c.1577C>T	XP_005250103.1:p.Ala526Val
XM_011516529.1:c.1577C>T	XP_011514831.1:p.Ala526Val
XM_011516530.1:c.1577C>T	XP_011514832.1:p.Ala526Val
XR_242190.1:n.1585C>T
XR_927520.1:n.1585C>T
XR_927521.1:n.1585C>T
XR_927522.1:n.1585C>T
XR_927523.1:n.1585C>T
NM_001354609.1:c.1577C>T	NP_001341538.1:p.Ala526Val
NM_004333.5:c.1577C>T	NP_004324.2:p.Ala526Val
NR_148928.1:n.1882C>T
XM_017012558.1:c.1697C>T	XP_016868047.1:p.Ala566Val
XM_017012559.1:c.1697C>T	XP_016868048.1:p.Ala566Val
XR_001744857.1:n.1705C>T
XR_001744858.1:n.1705C>T
NM_001354609.2:c.1577C>T	NP_001341538.1:p.Ala526Val
NM_001374244.1:c.1697C>T	NP_001361173.1:p.Ala566Val
NM_001374258.1:c.1697C>T MANE Plus Clinical	NP_001361187.1:p.Ala566Val
NM_004333.6:c.1577C>T MANE Select	NP_004324.2:p.Ala526Val
NM_001378467.1:c.1586C>T	NP_001365396.1:p.Ala529Val
NM_001378468.1:c.1577C>T	NP_001365397.1:p.Ala526Val
NM_001378469.1:c.1511C>T	NP_001365398.1:p.Ala504Val
NM_001378470.1:c.1475C>T	NP_001365399.1:p.Ala492Val
NM_001378471.1:c.1466C>T	NP_001365400.1:p.Ala489Val
NM_001378472.1:c.1421C>T	NP_001365401.1:p.Ala474Val
NM_001378473.1:c.1421C>T	NP_001365402.1:p.Ala474Val
NM_001378474.1:c.1577C>T	NP_001365403.1:p.Ala526Val
NM_001378475.1:c.1313C>T	NP_001365404.1:p.Ala438Val