Canonical Allele Identifier: CA412972852

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1440068
• ClinVar RCV Id: RCV001950313
• dbSNP Id: rs781887034
• gnomAD v2: X-37642819-G-A
• gnomAD v4: X-37783566-G-A
• COSMIC: COSM385219
• MyVariant Identifiers: chrX:g.37642819G>A (hg19) ; chrX:g.37783566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783566G>A , CM000685.2:g.37783566G>A	GRCh38
NC_000023.10:g.37642819G>A , CM000685.1:g.37642819G>A	GRCh37
NC_000023.9:g.37527763G>A	NCBI36
NG_009065.1:g.8550G>A , LRG_53:g.8550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.218G>A	ENSP00000512461.1:p.Arg73Gln
ENST00000696171.1:c.122G>A	ENSP00000512462.1:p.Arg41Gln
ENST00000696172.1:c.218G>A	ENSP00000512463.1:p.Arg73Gln
ENST00000696173.1:n.226G>A
ENST00000378588.5:c.218G>A MANE Select	ENSP00000367851.4:p.Arg73Gln
ENST00000378588.4:c.218G>A	ENSP00000367851.4:p.Arg73Gln
ENST00000465127.1:c.171+357566G>A	ENSP00000417050.1:n.171+357566G>A
NM_000397.3:c.218G>A , LRG_53t1:c.218G>A	NP_000388.2:p.Arg73Gln
XM_011543890.1:c.-213G>A	XP_011542192.1:n.-213G>A
NM_000397.4:c.218G>A MANE Select	NP_000388.2:p.Arg73Gln