Canonical Allele Identifier: CA328041578

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2826103
• ClinVar RCV Id: RCV003622834
• dbSNP Id: rs914512029
• gnomAD v4: X-37804068-G-A
• MyVariant Identifiers: chrX:g.37663321G>A (hg19) ; chrX:g.37804068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804068G>A , CM000685.2:g.37804068G>A	GRCh38
NC_000023.10:g.37663321G>A , CM000685.1:g.37663321G>A	GRCh37
NC_000023.9:g.37548265G>A	NCBI36
NG_009065.1:g.29052G>A , LRG_53:g.29052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*598G>A	ENSP00000512461.1:n.*598G>A
ENST00000696171.1:c.993G>A	ENSP00000512462.1:p.Glu331=
ENST00000378588.5:c.1089G>A MANE Select	ENSP00000367851.4:p.Glu363=
ENST00000378588.4:c.1089G>A	ENSP00000367851.4:p.Glu363=
ENST00000465127.1:c.171+378068G>A	ENSP00000417050.1:n.171+378068G>A
ENST00000492288.1:n.514G>A
NM_000397.3:c.1089G>A , LRG_53t1:c.1089G>A	NP_000388.2:p.Glu363=
XM_011543890.1:c.783G>A	XP_011542192.1:p.Glu261=
NM_000397.4:c.1089G>A MANE Select	NP_000388.2:p.Glu363=