Canonical Allele Identifier: CA412976597

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1367779
• ClinVar RCV Id: RCV001964497
• dbSNP Id: rs782756433
• MyVariant Identifiers: chrX:g.37658269C>T (hg19) ; chrX:g.37799016C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*245C>T	ENSP00000512461.1:n.*245C>T
ENST00000696171.1:c.640C>T	ENSP00000512462.1:p.Gln214Ter
ENST00000696172.1:c.*12C>T	ENSP00000512463.1:n.*12C>T
ENST00000378588.5:c.736C>T MANE Select	ENSP00000367851.4:p.Gln246Ter
ENST00000378588.4:c.736C>T	ENSP00000367851.4:p.Gln246Ter
ENST00000465127.1:c.171+373016C>T	ENSP00000417050.1:n.171+373016C>T
ENST00000492288.1:n.161C>T
NM_000397.3:c.736C>T , LRG_53t1:c.736C>T	NP_000388.2:p.Gln246Ter
XM_011543890.1:c.430C>T	XP_011542192.1:p.Gln144Ter
NM_000397.4:c.736C>T MANE Select	NP_000388.2:p.Gln246Ter