Canonical Allele Identifier: CA219756

Gene: CYBB

Linked Data

• ClinVar Variation Id: 68412
• ClinVar RCV Id: RCV000059282 ; RCV001208587
• dbSNP Id: rs151344466
• gnomAD v4: X-37803904-G-A
• MyVariant Identifiers: chrX:g.37663157G>A (hg19) ; chrX:g.37803904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803904G>A , CM000685.2:g.37803904G>A	GRCh38
NC_000023.10:g.37663157G>A , CM000685.1:g.37663157G>A	GRCh37
NC_000023.9:g.37548101G>A	NCBI36
NG_009065.1:g.28888G>A , LRG_53:g.28888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*434G>A	ENSP00000512461.1:n.*434G>A
ENST00000696171.1:c.829G>A	ENSP00000512462.1:p.Glu277Lys
ENST00000378588.5:c.925G>A MANE Select	ENSP00000367851.4:p.Glu309Lys
ENST00000378588.4:c.925G>A	ENSP00000367851.4:p.Glu309Lys
ENST00000465127.1:c.171+377904G>A	ENSP00000417050.1:n.171+377904G>A
ENST00000492288.1:n.350G>A
NM_000397.3:c.925G>A , LRG_53t1:c.925G>A	NP_000388.2:p.Glu309Lys
XM_011543890.1:c.619G>A	XP_011542192.1:p.Glu207Lys
NM_000397.4:c.925G>A MANE Select	NP_000388.2:p.Glu309Lys