Canonical Allele Identifier: CA128806

Gene: CYBB

Linked Data

• ClinVar Variation Id: 29970
• ClinVar RCV Id: RCV000022862 ; RCV000059260 ; RCV000208608
• dbSNP Id: rs151344497
• MyVariant Identifiers: chrX:g.37655252A>C (hg19) ; chrX:g.37795999A>C (hg38)
• PubMed: PMID:21278736 ; PMID:22876374

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795999A>C , CM000685.2:g.37795999A>C	GRCh38
NC_000023.10:g.37655252A>C , CM000685.1:g.37655252A>C	GRCh37
NC_000023.9:g.37540192A>C	NCBI36
NG_009065.1:g.20979A>C , LRG_53:g.20979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*41A>C	ENSP00000512461.1:n.*41A>C
ENST00000696171.1:c.436A>C	ENSP00000512462.1:p.Thr146Pro
ENST00000696172.1:c.338-2956A>C	ENSP00000512463.1:n.338-2956A>C
ENST00000378588.5:c.532A>C MANE Select	ENSP00000367851.4:p.Thr178Pro
ENST00000378588.4:c.532A>C	ENSP00000367851.4:p.Thr178Pro
ENST00000465127.1:c.171+369999A>C	ENSP00000417050.1:n.171+369999A>C
NM_000397.3:c.532A>C , LRG_53t1:c.532A>C	NP_000388.2:p.Thr178Pro
XM_011543890.1:c.226A>C	XP_011542192.1:p.Thr76Pro
NM_000397.4:c.532A>C MANE Select	NP_000388.2:p.Thr178Pro