Canonical Allele Identifier: CA369543924
Gene: BRAF HGNC NCBI

Linked Data

dbSNP Id: rs755214031

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.140754214T>G , CM000669.2:g.140754214T>G GRCh38
NC_000007.13:g.140454014T>G , CM000669.1:g.140454014T>G GRCh37
NC_000007.12:g.140100483T>G NCBI36
NG_007873.3:g.175551A>C , LRG_299:g.175551A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646891.2:c.1714A>C MANE Select ENSP00000493543.1:p.Ile572Leu
ENST00000288602.11:c.1834A>C ENSP00000288602.7:p.Ile612Leu
ENST00000479537.6:c.384A>C
ENST00000496384.7:c.1714A>C ENSP00000419060.2:p.Ile572Leu
ENST00000497784.2:c.*1164A>C ENSP00000420119.2:n.*1164A>C
ENST00000642228.1:c.*792A>C ENSP00000493678.1:n.*792A>C
ENST00000642875.1:n.1259-4796A>C
ENST00000644120.1:n.2104A>C
ENST00000644650.1:c.810A>C
ENST00000644905.1:n.1803A>C
ENST00000644969.2:c.1834A>C MANE Plus Clinical ENSP00000496776.1:p.Ile612Leu
ENST00000646730.1:c.*290A>C ENSP00000494784.1:n.*290A>C
ENST00000646891.1:c.1714A>C ENSP00000493543.1:p.Ile572Leu
ENST00000647434.1:c.738-4796A>C ENSP00000495132.1:n.738-4796A>C
ENST00000288602.10:c.1714A>C ENSP00000288602.6:p.Ile572Leu
ENST00000496384.6:c.537A>C
ENST00000497784.1:c.1749A>C ENSP00000420119.1:n.1749A>C
NM_004333.4:c.1714A>C , LRG_299t1:c.1714A>C NP_004324.2:p.Ile572Leu
XM_005250045.1:c.1714A>C XP_005250102.1:p.Ile572Leu
XM_005250046.1:c.1714A>C XP_005250103.1:p.Ile572Leu
XM_011516529.1:c.1714A>C XP_011514831.1:p.Ile572Leu
XM_011516530.1:c.1695-4796A>C XP_011514832.1:n.1695-4796A>C
XR_242190.1:n.1722A>C
XR_927520.1:n.1722A>C
XR_927521.1:n.1722A>C
XR_927522.1:n.1703-4796A>C
XR_927523.1:n.1703-4796A>C
NM_001354609.1:c.1714A>C NP_001341538.1:p.Ile572Leu
NM_004333.5:c.1714A>C NP_004324.2:p.Ile572Leu
NR_148928.1:n.2019A>C
XM_017012558.1:c.1834A>C XP_016868047.1:p.Ile612Leu
XM_017012559.1:c.1834A>C XP_016868048.1:p.Ile612Leu
XR_001744857.1:n.1842A>C
XR_001744858.1:n.1823-4796A>C
NM_001354609.2:c.1714A>C NP_001341538.1:p.Ile572Leu
NM_001374244.1:c.1834A>C NP_001361173.1:p.Ile612Leu
NM_001374258.1:c.1834A>C MANE Plus Clinical NP_001361187.1:p.Ile612Leu
NM_004333.6:c.1714A>C MANE Select NP_004324.2:p.Ile572Leu
NM_001378467.1:c.1723A>C NP_001365396.1:p.Ile575Leu
NM_001378468.1:c.1714A>C NP_001365397.1:p.Ile572Leu
NM_001378469.1:c.1648A>C NP_001365398.1:p.Ile550Leu
NM_001378470.1:c.1612A>C NP_001365399.1:p.Ile538Leu
NM_001378471.1:c.1603A>C NP_001365400.1:p.Ile535Leu
NM_001378472.1:c.1558A>C NP_001365401.1:p.Ile520Leu
NM_001378473.1:c.1558A>C NP_001365402.1:p.Ile520Leu
NM_001378474.1:c.1714A>C NP_001365403.1:p.Ile572Leu
NM_001378475.1:c.1450A>C NP_001365404.1:p.Ile484Leu