Canonical Allele Identifier: CA328041576

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2876027
• ClinVar RCV Id: RCV003623611
• dbSNP Id: rs924289969
• gnomAD v4: X-37804003-C-T
• MyVariant Identifiers: chrX:g.37663256C>T (hg19) ; chrX:g.37804003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804003C>T , CM000685.2:g.37804003C>T	GRCh38
NC_000023.10:g.37663256C>T , CM000685.1:g.37663256C>T	GRCh37
NC_000023.9:g.37548200C>T	NCBI36
NG_009065.1:g.28987C>T , LRG_53:g.28987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*533C>T	ENSP00000512461.1:n.*533C>T
ENST00000696171.1:c.928C>T	ENSP00000512462.1:p.Leu310=
ENST00000378588.5:c.1024C>T MANE Select	ENSP00000367851.4:p.Leu342=
ENST00000378588.4:c.1024C>T	ENSP00000367851.4:p.Leu342=
ENST00000465127.1:c.171+378003C>T	ENSP00000417050.1:n.171+378003C>T
ENST00000492288.1:n.449C>T
NM_000397.3:c.1024C>T , LRG_53t1:c.1024C>T	NP_000388.2:p.Leu342=
XM_011543890.1:c.718C>T	XP_011542192.1:p.Leu240=
NM_000397.4:c.1024C>T MANE Select	NP_000388.2:p.Leu342=