Canonical Allele Identifier: CA219746

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68406
• ClinVar RCV Id: RCV000059273
• dbSNP Id: rs151344483
• MyVariant Identifiers: chrX:g.37655391C>G (hg19) ; chrX:g.37796138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796138C>G , CM000685.2:g.37796138C>G	GRCh38
NC_000023.10:g.37655391C>G , CM000685.1:g.37655391C>G	GRCh37
NC_000023.9:g.37540331C>G	NCBI36
NG_009065.1:g.21118C>G , LRG_53:g.21118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*180C>G	ENSP00000512461.1:n.*180C>G
ENST00000696171.1:c.575C>G	ENSP00000512462.1:p.Ala192Gly
ENST00000696172.1:c.338-2817C>G	ENSP00000512463.1:n.338-2817C>G
ENST00000378588.5:c.671C>G MANE Select	ENSP00000367851.4:p.Ala224Gly
ENST00000378588.4:c.671C>G	ENSP00000367851.4:p.Ala224Gly
ENST00000465127.1:c.171+370138C>G	ENSP00000417050.1:n.171+370138C>G
NM_000397.3:c.671C>G , LRG_53t1:c.671C>G	NP_000388.2:p.Ala224Gly
XM_011543890.1:c.365C>G	XP_011542192.1:p.Ala122Gly
NM_000397.4:c.671C>G MANE Select	NP_000388.2:p.Ala224Gly