Canonical Allele Identifier: CA10383770
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1170330
ClinVar RCV Id: RCV001522597
dbSNP Id: rs782727740
ExAC: X:37655383 C / A
gnomAD v2: X-37655383-C-A
gnomAD v3: X-37796130-C-A
gnomAD v4: X-37796130-C-A
MyVariant Identifiers: chrX:g.37655383C>A (hg19) chrX:g.37796130C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796130C>A , CM000685.2:g.37796130C>A GRCh38
NC_000023.10:g.37655383C>A , CM000685.1:g.37655383C>A GRCh37
NC_000023.9:g.37540323C>A NCBI36
NG_009065.1:g.21110C>A , LRG_53:g.21110C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*172C>A ENSP00000512461.1:n.*172C>A
ENST00000696171.1:c.567C>A ENSP00000512462.1:p.Ile189=
ENST00000696172.1:c.338-2825C>A ENSP00000512463.1:n.338-2825C>A
ENST00000378588.5:c.663C>A MANE Select ENSP00000367851.4:p.Ile221=
ENST00000378588.4:c.663C>A ENSP00000367851.4:p.Ile221=
ENST00000465127.1:c.171+370130C>A ENSP00000417050.1:n.171+370130C>A
NM_000397.3:c.663C>A , LRG_53t1:c.663C>A NP_000388.2:p.Ile221=
XM_011543890.1:c.357C>A XP_011542192.1:p.Ile119=
NM_000397.4:c.663C>A MANE Select NP_000388.2:p.Ile221=
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