Canonical Allele Identifier: CA369543216

Gene: BRAF

Linked Data

• dbSNP Id: rs2128998421
• MyVariant Identifiers: chr7:g.140453167C>G (hg19) ; chr7:g.140753367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140753367C>G , CM000669.2:g.140753367C>G	GRCh38
NC_000007.13:g.140453167C>G , CM000669.1:g.140453167C>G	GRCh37
NC_000007.12:g.140099636C>G	NCBI36
NG_007873.3:g.176398G>C , LRG_299:g.176398G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646891.2:c.1768G>C MANE Select	ENSP00000493543.1:p.Val590Leu
ENST00000288602.11:c.1888G>C	ENSP00000288602.7:p.Val630Leu
ENST00000479537.6:c.438G>C
ENST00000496384.7:c.1768G>C	ENSP00000419060.2:p.Val590Leu
ENST00000497784.2:c.*1218G>C	ENSP00000420119.2:n.*1218G>C
ENST00000642228.1:c.*846G>C	ENSP00000493678.1:n.*846G>C
ENST00000642875.1:n.1259-3949G>C
ENST00000644120.1:n.2158G>C
ENST00000644650.1:c.864G>C
ENST00000644905.1:n.2650G>C
ENST00000644969.2:c.1888G>C MANE Plus Clinical	ENSP00000496776.1:p.Val630Leu
ENST00000646730.1:c.*344G>C	ENSP00000494784.1:n.*344G>C
ENST00000646891.1:c.1768G>C	ENSP00000493543.1:p.Val590Leu
ENST00000647434.1:c.738-3949G>C	ENSP00000495132.1:n.738-3949G>C
ENST00000288602.10:c.1768G>C	ENSP00000288602.6:p.Val590Leu
ENST00000479537.5:c.52G>C	ENSP00000418033.1:p.Val18Leu
ENST00000496384.6:c.591G>C
ENST00000497784.1:c.1803G>C	ENSP00000420119.1:n.1803G>C
NM_004333.4:c.1768G>C , LRG_299t1:c.1768G>C	NP_004324.2:p.Val590Leu
XM_005250045.1:c.1768G>C	XP_005250102.1:p.Val590Leu
XM_005250046.1:c.1768G>C	XP_005250103.1:p.Val590Leu
XM_011516529.1:c.1768G>C	XP_011514831.1:p.Val590Leu
XM_011516530.1:c.1695-3949G>C	XP_011514832.1:n.1695-3949G>C
XR_242190.1:n.1776G>C
XR_927520.1:n.1776G>C
XR_927521.1:n.1776G>C
XR_927522.1:n.1703-3949G>C
XR_927523.1:n.1703-3949G>C
NM_001354609.1:c.1768G>C	NP_001341538.1:p.Val590Leu
NM_004333.5:c.1768G>C	NP_004324.2:p.Val590Leu
NR_148928.1:n.2866G>C
XM_017012558.1:c.1888G>C	XP_016868047.1:p.Val630Leu
XM_017012559.1:c.1888G>C	XP_016868048.1:p.Val630Leu
XR_001744857.1:n.1896G>C
XR_001744858.1:n.1823-3949G>C
NM_001354609.2:c.1768G>C	NP_001341538.1:p.Val590Leu
NM_001374244.1:c.1888G>C	NP_001361173.1:p.Val630Leu
NM_001374258.1:c.1888G>C MANE Plus Clinical	NP_001361187.1:p.Val630Leu
NM_004333.6:c.1768G>C MANE Select	NP_004324.2:p.Val590Leu
NM_001378467.1:c.1777G>C	NP_001365396.1:p.Val593Leu
NM_001378468.1:c.1768G>C	NP_001365397.1:p.Val590Leu
NM_001378469.1:c.1702G>C	NP_001365398.1:p.Val568Leu
NM_001378470.1:c.1666G>C	NP_001365399.1:p.Val556Leu
NM_001378471.1:c.1657G>C	NP_001365400.1:p.Val553Leu
NM_001378472.1:c.1612G>C	NP_001365401.1:p.Val538Leu
NM_001378473.1:c.1612G>C	NP_001365402.1:p.Val538Leu
NM_001378474.1:c.1768G>C	NP_001365403.1:p.Val590Leu
NM_001378475.1:c.1504G>C	NP_001365404.1:p.Val502Leu