Canonical Allele Identifier: CA412976404

Gene: CYBB

Linked Data

• gnomAD v4: X-37796115-C-G
• MyVariant Identifiers: chrX:g.37655368C>G (hg19) ; chrX:g.37796115C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796115C>G , CM000685.2:g.37796115C>G	GRCh38
NC_000023.10:g.37655368C>G , CM000685.1:g.37655368C>G	GRCh37
NC_000023.9:g.37540308C>G	NCBI36
NG_009065.1:g.21095C>G , LRG_53:g.21095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*157C>G	ENSP00000512461.1:n.*157C>G
ENST00000696171.1:c.552C>G	ENSP00000512462.1:p.Phe184Leu
ENST00000696172.1:c.338-2840C>G	ENSP00000512463.1:n.338-2840C>G
ENST00000378588.5:c.648C>G MANE Select	ENSP00000367851.4:p.Phe216Leu
ENST00000378588.4:c.648C>G	ENSP00000367851.4:p.Phe216Leu
ENST00000465127.1:c.171+370115C>G	ENSP00000417050.1:n.171+370115C>G
NM_000397.3:c.648C>G , LRG_53t1:c.648C>G	NP_000388.2:p.Phe216Leu
XM_011543890.1:c.342C>G	XP_011542192.1:p.Phe114Leu
NM_000397.4:c.648C>G MANE Select	NP_000388.2:p.Phe216Leu