Canonical Allele Identifier: CA913190351

Gene: CYBB

Linked Data

• ClinVar Variation Id: 633183
• ClinVar RCV Id: RCV000781319
• dbSNP Id: rs1569479417

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796175T>G , CM000685.2:g.37796175T>G	GRCh38
NC_000023.10:g.37655428T>G , CM000685.1:g.37655428T>G	GRCh37
NC_000023.9:g.37540368T>G	NCBI36
NG_009065.1:g.21155T>G , LRG_53:g.21155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*183+34T>G	ENSP00000512461.1:n.*183+34T>G
ENST00000696171.1:c.578+34T>G	ENSP00000512462.1:n.578+34T>G
ENST00000696172.1:c.338-2780T>G	ENSP00000512463.1:n.338-2780T>G
ENST00000378588.5:c.674+34T>G MANE Select	ENSP00000367851.4:n.674+34T>G
ENST00000378588.4:c.674+34T>G	ENSP00000367851.4:n.674+34T>G
ENST00000465127.1:c.171+370175T>G	ENSP00000417050.1:n.171+370175T>G
NM_000397.3:c.674+34T>G , LRG_53t1:c.674+34T>G	NP_000388.2:n.674+34T>G
XM_011543890.1:c.368+34T>G	XP_011542192.1:n.368+34T>G
NM_000397.4:c.674+34T>G MANE Select	NP_000388.2:n.674+34T>G