Canonical Allele Identifier: CA369543823

Gene: BRAF

Linked Data

• dbSNP Id: rs2128999579
• MyVariant Identifiers: chr7:g.140453992C>G (hg19) ; chr7:g.140754192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140754192C>G , CM000669.2:g.140754192C>G	GRCh38
NC_000007.13:g.140453992C>G , CM000669.1:g.140453992C>G	GRCh37
NC_000007.12:g.140100461C>G	NCBI36
NG_007873.3:g.175573G>C , LRG_299:g.175573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.1736G>C MANE Select	ENSP00000493543.1:p.Ser579Thr
ENST00000288602.11:c.1856G>C	ENSP00000288602.7:p.Ser619Thr
ENST00000479537.6:c.406G>C
ENST00000496384.7:c.1736G>C	ENSP00000419060.2:p.Ser579Thr
ENST00000497784.2:c.*1186G>C	ENSP00000420119.2:n.*1186G>C
ENST00000642228.1:c.*814G>C	ENSP00000493678.1:n.*814G>C
ENST00000642875.1:n.1259-4774G>C
ENST00000644120.1:n.2126G>C
ENST00000644650.1:c.832G>C
ENST00000644905.1:n.1825G>C
ENST00000644969.2:c.1856G>C MANE Plus Clinical	ENSP00000496776.1:p.Ser619Thr
ENST00000646730.1:c.*312G>C	ENSP00000494784.1:n.*312G>C
ENST00000646891.1:c.1736G>C	ENSP00000493543.1:p.Ser579Thr
ENST00000647434.1:c.738-4774G>C	ENSP00000495132.1:n.738-4774G>C
ENST00000288602.10:c.1736G>C	ENSP00000288602.6:p.Ser579Thr
ENST00000479537.5:c.20G>C	ENSP00000418033.1:p.Ser7Thr
ENST00000496384.6:c.559G>C
ENST00000497784.1:c.1771G>C	ENSP00000420119.1:n.1771G>C
NM_004333.4:c.1736G>C , LRG_299t1:c.1736G>C	NP_004324.2:p.Ser579Thr
XM_005250045.1:c.1736G>C	XP_005250102.1:p.Ser579Thr
XM_005250046.1:c.1736G>C	XP_005250103.1:p.Ser579Thr
XM_011516529.1:c.1736G>C	XP_011514831.1:p.Ser579Thr
XM_011516530.1:c.1695-4774G>C	XP_011514832.1:n.1695-4774G>C
XR_242190.1:n.1744G>C
XR_927520.1:n.1744G>C
XR_927521.1:n.1744G>C
XR_927522.1:n.1703-4774G>C
XR_927523.1:n.1703-4774G>C
NM_001354609.1:c.1736G>C	NP_001341538.1:p.Ser579Thr
NM_004333.5:c.1736G>C	NP_004324.2:p.Ser579Thr
NR_148928.1:n.2041G>C
XM_017012558.1:c.1856G>C	XP_016868047.1:p.Ser619Thr
XM_017012559.1:c.1856G>C	XP_016868048.1:p.Ser619Thr
XR_001744857.1:n.1864G>C
XR_001744858.1:n.1823-4774G>C
NM_001354609.2:c.1736G>C	NP_001341538.1:p.Ser579Thr
NM_001374244.1:c.1856G>C	NP_001361173.1:p.Ser619Thr
NM_001374258.1:c.1856G>C MANE Plus Clinical	NP_001361187.1:p.Ser619Thr
NM_004333.6:c.1736G>C MANE Select	NP_004324.2:p.Ser579Thr
NM_001378467.1:c.1745G>C	NP_001365396.1:p.Ser582Thr
NM_001378468.1:c.1736G>C	NP_001365397.1:p.Ser579Thr
NM_001378469.1:c.1670G>C	NP_001365398.1:p.Ser557Thr
NM_001378470.1:c.1634G>C	NP_001365399.1:p.Ser545Thr
NM_001378471.1:c.1625G>C	NP_001365400.1:p.Ser542Thr
NM_001378472.1:c.1580G>C	NP_001365401.1:p.Ser527Thr
NM_001378473.1:c.1580G>C	NP_001365402.1:p.Ser527Thr
NM_001378474.1:c.1736G>C	NP_001365403.1:p.Ser579Thr
NM_001378475.1:c.1472G>C	NP_001365404.1:p.Ser491Thr