Canonical Allele Identifier: CA412976016

Gene: CYBB

Linked Data

• dbSNP Id: rs1187672764
• gnomAD v4: X-37796023-C-T
• MyVariant Identifiers: chrX:g.37655276C>T (hg19) ; chrX:g.37796023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796023C>T , CM000685.2:g.37796023C>T	GRCh38
NC_000023.10:g.37655276C>T , CM000685.1:g.37655276C>T	GRCh37
NC_000023.9:g.37540216C>T	NCBI36
NG_009065.1:g.21003C>T , LRG_53:g.21003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*65C>T	ENSP00000512461.1:n.*65C>T
ENST00000696171.1:c.460C>T	ENSP00000512462.1:p.Leu154Phe
ENST00000696172.1:c.338-2932C>T	ENSP00000512463.1:n.338-2932C>T
ENST00000378588.5:c.556C>T MANE Select	ENSP00000367851.4:p.Leu186Phe
ENST00000378588.4:c.556C>T	ENSP00000367851.4:p.Leu186Phe
ENST00000465127.1:c.171+370023C>T	ENSP00000417050.1:n.171+370023C>T
NM_000397.3:c.556C>T , LRG_53t1:c.556C>T	NP_000388.2:p.Leu186Phe
XM_011543890.1:c.250C>T	XP_011542192.1:p.Leu84Phe
NM_000397.4:c.556C>T MANE Select	NP_000388.2:p.Leu186Phe