Canonical Allele Identifier: CA128804

Gene: CYBB

Linked Data

• ClinVar Variation Id: 29969
• ClinVar RCV Id: RCV000022861 ; RCV000059275 ; RCV000208611
• dbSNP Id: rs151344498
• MyVariant Identifiers: chrX:g.37658225A>C (hg19) ; chrX:g.37798972A>C (hg38)
• PubMed: PMID:17293536 ; PMID:21278736 ; PMID:22876374

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37798972A>C , CM000685.2:g.37798972A>C	GRCh38
NC_000023.10:g.37658225A>C , CM000685.1:g.37658225A>C	GRCh37
NC_000023.9:g.37543165A>C	NCBI36
NG_009065.1:g.23952A>C , LRG_53:g.23952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*201A>C	ENSP00000512461.1:n.*201A>C
ENST00000696171.1:c.596A>C	ENSP00000512462.1:p.Gln199Pro
ENST00000696172.1:c.355A>C	ENSP00000512463.1:p.Arg119=
ENST00000378588.5:c.692A>C MANE Select	ENSP00000367851.4:p.Gln231Pro
ENST00000378588.4:c.692A>C	ENSP00000367851.4:p.Gln231Pro
ENST00000465127.1:c.171+372972A>C	ENSP00000417050.1:n.171+372972A>C
ENST00000492288.1:n.117A>C
NM_000397.3:c.692A>C , LRG_53t1:c.692A>C	NP_000388.2:p.Gln231Pro
XM_011543890.1:c.386A>C	XP_011542192.1:p.Gln129Pro
NM_000397.4:c.692A>C MANE Select	NP_000388.2:p.Gln231Pro