Canonical Allele Identifier: CA2573158630

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1467599
• ClinVar RCV Id: RCV001970446
• dbSNP Id: rs2146811888

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796147T>G , CM000685.2:g.37796147T>G	GRCh38
NC_000023.10:g.37655400T>G , CM000685.1:g.37655400T>G	GRCh37
NC_000023.9:g.37540340T>G	NCBI36
NG_009065.1:g.21127T>G , LRG_53:g.21127T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*183+6T>G	ENSP00000512461.1:n.*183+6T>G
ENST00000696171.1:c.578+6T>G	ENSP00000512462.1:n.578+6T>G
ENST00000696172.1:c.338-2808T>G	ENSP00000512463.1:n.338-2808T>G
ENST00000378588.5:c.674+6T>G MANE Select	ENSP00000367851.4:n.674+6T>G
ENST00000378588.4:c.674+6T>G	ENSP00000367851.4:n.674+6T>G
ENST00000465127.1:c.171+370147T>G	ENSP00000417050.1:n.171+370147T>G
NM_000397.3:c.674+6T>G , LRG_53t1:c.674+6T>G	NP_000388.2:n.674+6T>G
XM_011543890.1:c.368+6T>G	XP_011542192.1:n.368+6T>G
NM_000397.4:c.674+6T>G MANE Select	NP_000388.2:n.674+6T>G