Canonical Allele Identifier: CA412976434

Gene: CYBB

Linked Data

• dbSNP Id: rs1556468404
• gnomAD v2: X-37655381-A-G
• gnomAD v4: X-37796128-A-G
• MyVariant Identifiers: chrX:g.37655381A>G (hg19) ; chrX:g.37796128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796128A>G , CM000685.2:g.37796128A>G	GRCh38
NC_000023.10:g.37655381A>G , CM000685.1:g.37655381A>G	GRCh37
NC_000023.9:g.37540321A>G	NCBI36
NG_009065.1:g.21108A>G , LRG_53:g.21108A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*170A>G	ENSP00000512461.1:n.*170A>G
ENST00000696171.1:c.565A>G	ENSP00000512462.1:p.Ile189Val
ENST00000696172.1:c.338-2827A>G	ENSP00000512463.1:n.338-2827A>G
ENST00000378588.5:c.661A>G MANE Select	ENSP00000367851.4:p.Ile221Val
ENST00000378588.4:c.661A>G	ENSP00000367851.4:p.Ile221Val
ENST00000465127.1:c.171+370128A>G	ENSP00000417050.1:n.171+370128A>G
NM_000397.3:c.661A>G , LRG_53t1:c.661A>G	NP_000388.2:p.Ile221Val
XM_011543890.1:c.355A>G	XP_011542192.1:p.Ile119Val
NM_000397.4:c.661A>G MANE Select	NP_000388.2:p.Ile221Val