Canonical Allele Identifier: CA219730
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 68399
ClinVar RCV Id: RCV000059266
dbSNP Id: rs151344482

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796093A>G , CM000685.2:g.37796093A>G GRCh38
NC_000023.10:g.37655346A>G , CM000685.1:g.37655346A>G GRCh37
NC_000023.9:g.37540286A>G NCBI36
NG_009065.1:g.21073A>G , LRG_53:g.21073A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*135A>G ENSP00000512461.1:n.*135A>G
ENST00000696171.1:c.530A>G ENSP00000512462.1:p.His177Arg
ENST00000696172.1:c.338-2862A>G ENSP00000512463.1:n.338-2862A>G
ENST00000378588.5:c.626A>G MANE Select ENSP00000367851.4:p.His209Arg
ENST00000378588.4:c.626A>G ENSP00000367851.4:p.His209Arg
ENST00000465127.1:c.171+370093A>G ENSP00000417050.1:n.171+370093A>G
NM_000397.3:c.626A>G , LRG_53t1:c.626A>G NP_000388.2:p.His209Arg
XM_011543890.1:c.320A>G XP_011542192.1:p.His107Arg
NM_000397.4:c.626A>G MANE Select NP_000388.2:p.His209Arg