Canonical Allele Identifier: CA2580617874
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2446362
ClinVar RCV Id: RCV003329128
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804136T>A , CM000685.2:g.37804136T>A GRCh38
NC_000023.10:g.37663389T>A , CM000685.1:g.37663389T>A GRCh37
NC_000023.9:g.37548333T>A NCBI36
NG_009065.1:g.29120T>A , LRG_53:g.29120T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*660+6T>A ENSP00000512461.1:n.*660+6T>A
ENST00000696171.1:c.1055+6T>A ENSP00000512462.1:n.1055+6T>A
ENST00000378588.5:c.1151+6T>A MANE Select ENSP00000367851.4:n.1151+6T>A
ENST00000378588.4:c.1151+6T>A ENSP00000367851.4:n.1151+6T>A
ENST00000465127.1:c.171+378136T>A ENSP00000417050.1:n.171+378136T>A
NM_000397.3:c.1151+6T>A , LRG_53t1:c.1151+6T>A NP_000388.2:n.1151+6T>A
XM_011543890.1:c.845+6T>A XP_011542192.1:n.845+6T>A
NM_000397.4:c.1151+6T>A MANE Select NP_000388.2:n.1151+6T>A
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