Canonical Allele Identifier: CA412976596

Gene: CYBB

Linked Data

• gnomAD v4: X-37799016-C-A
• MyVariant Identifiers: chrX:g.37658269C>A (hg19) ; chrX:g.37799016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799016C>A , CM000685.2:g.37799016C>A	GRCh38
NC_000023.10:g.37658269C>A , CM000685.1:g.37658269C>A	GRCh37
NC_000023.9:g.37543209C>A	NCBI36
NG_009065.1:g.23996C>A , LRG_53:g.23996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*245C>A	ENSP00000512461.1:n.*245C>A
ENST00000696171.1:c.640C>A	ENSP00000512462.1:p.Gln214Lys
ENST00000696172.1:c.*12C>A	ENSP00000512463.1:n.*12C>A
ENST00000378588.5:c.736C>A MANE Select	ENSP00000367851.4:p.Gln246Lys
ENST00000378588.4:c.736C>A	ENSP00000367851.4:p.Gln246Lys
ENST00000465127.1:c.171+373016C>A	ENSP00000417050.1:n.171+373016C>A
ENST00000492288.1:n.161C>A
NM_000397.3:c.736C>A , LRG_53t1:c.736C>A	NP_000388.2:p.Gln246Lys
XM_011543890.1:c.430C>A	XP_011542192.1:p.Gln144Lys
NM_000397.4:c.736C>A MANE Select	NP_000388.2:p.Gln246Lys