Canonical Allele Identifier: CA279968
Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 13965
dbSNP Id: rs180177034

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140801536C>G , CM000669.2:g.140801536C>G GRCh38
NC_000007.13:g.140501336C>G , CM000669.1:g.140501336C>G GRCh37
NC_000007.12:g.140147805C>G NCBI36
NG_007873.3:g.128229G>C , LRG_299:g.128229G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000288602.11:c.736G>C ENSP00000288602.7:p.Ala246Pro
ENST00000496384.7:c.736G>C ENSP00000419060.2:p.Ala246Pro
ENST00000497784.2:c.*186G>C ENSP00000420119.2:p.=
ENST00000642228.1:c.736G>C ENSP00000493678.1:p.Ala246Pro
ENST00000642272.1:n.768G>C
ENST00000642875.1:n.230G>C
ENST00000643356.1:n.337G>C
ENST00000644120.1:n.1178G>C
ENST00000644905.1:n.825G>C
ENST00000644969.2:c.736G>C MANE Select ENSP00000496776.1:p.Ala246Pro
ENST00000646730.1:c.736G>C ENSP00000494784.1:p.Ala246Pro
ENST00000646891.1:c.736G>C ENSP00000493543.1:p.Ala246Pro
ENST00000288602.10:c.736G>C ENSP00000288602.6:p.Ala246Pro
ENST00000497784.1:n.771G>C ENSP00000420119.1:p.=
NM_004333.4:c.736G>C , LRG_299t1:c.736G>C NP_004324.2:p.Ala246Pro
XM_005250045.1:c.736G>C XP_005250102.1:p.Ala246Pro
XM_005250046.1:c.736G>C XP_005250103.1:p.Ala246Pro
XM_011516529.1:c.736G>C XP_011514831.1:p.Ala246Pro
XM_011516530.1:c.736G>C XP_011514832.1:p.Ala246Pro
XR_242190.1:n.744G>C
XR_927520.1:n.744G>C
XR_927521.1:n.744G>C
XR_927522.1:n.744G>C
XR_927523.1:n.744G>C
NM_001354609.1:c.736G>C NP_001341538.1:p.Ala246Pro
NM_004333.5:c.736G>C NP_004324.2:p.Ala246Pro
NR_148928.1:n.1041G>C
XM_017012558.1:c.736G>C XP_016868047.1:p.Ala246Pro
XM_017012559.1:c.736G>C XP_016868048.1:p.Ala246Pro
XR_001744857.1:n.744G>C
XR_001744858.1:n.744G>C
NM_001354609.2:c.736G>C NP_001341538.1:p.Ala246Pro
NM_001374244.1:c.736G>C NP_001361173.1:p.Ala246Pro
NM_001374258.1:c.736G>C MANE Select NP_001361187.1:p.Ala246Pro
NM_004333.6:c.736G>C NP_004324.2:p.Ala246Pro
NM_001378467.1:c.745G>C NP_001365396.1:p.Ala249Pro
NM_001378468.1:c.736G>C NP_001365397.1:p.Ala246Pro
NM_001378469.1:c.736G>C NP_001365398.1:p.Ala246Pro
NM_001378470.1:c.634G>C NP_001365399.1:p.Ala212Pro
NM_001378471.1:c.736G>C NP_001365400.1:p.Ala246Pro
NM_001378472.1:c.580G>C NP_001365401.1:p.Ala194Pro
NM_001378473.1:c.580G>C NP_001365402.1:p.Ala194Pro
NM_001378474.1:c.736G>C NP_001365403.1:p.Ala246Pro
NM_001378475.1:c.472G>C NP_001365404.1:p.Ala158Pro