Canonical Allele Identifier: CA412976354

Gene: CYBB

Linked Data

• dbSNP Id: rs1929302634
• gnomAD v3: X-37796098-C-T
• gnomAD v4: X-37796098-C-T
• MyVariant Identifiers: chrX:g.37655351C>T (hg19) ; chrX:g.37796098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796098C>T , CM000685.2:g.37796098C>T	GRCh38
NC_000023.10:g.37655351C>T , CM000685.1:g.37655351C>T	GRCh37
NC_000023.9:g.37540291C>T	NCBI36
NG_009065.1:g.21078C>T , LRG_53:g.21078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*140C>T	ENSP00000512461.1:n.*140C>T
ENST00000696171.1:c.535C>T	ENSP00000512462.1:p.Leu179Phe
ENST00000696172.1:c.338-2857C>T	ENSP00000512463.1:n.338-2857C>T
ENST00000378588.5:c.631C>T MANE Select	ENSP00000367851.4:p.Leu211Phe
ENST00000378588.4:c.631C>T	ENSP00000367851.4:p.Leu211Phe
ENST00000465127.1:c.171+370098C>T	ENSP00000417050.1:n.171+370098C>T
NM_000397.3:c.631C>T , LRG_53t1:c.631C>T	NP_000388.2:p.Leu211Phe
XM_011543890.1:c.325C>T	XP_011542192.1:p.Leu109Phe
NM_000397.4:c.631C>T MANE Select	NP_000388.2:p.Leu211Phe