Canonical Allele Identifier: CA2693426637
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2869998
ClinVar RCV Id: RCV003623546
gnomAD v4: X-37804144-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804144A>G , CM000685.2:g.37804144A>G GRCh38
NC_000023.10:g.37663397A>G , CM000685.1:g.37663397A>G GRCh37
NC_000023.9:g.37548341A>G NCBI36
NG_009065.1:g.29128A>G , LRG_53:g.29128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*660+14A>G ENSP00000512461.1:n.*660+14A>G
ENST00000696171.1:c.1055+14A>G ENSP00000512462.1:n.1055+14A>G
ENST00000378588.5:c.1151+14A>G MANE Select ENSP00000367851.4:n.1151+14A>G
ENST00000378588.4:c.1151+14A>G ENSP00000367851.4:n.1151+14A>G
ENST00000465127.1:c.171+378144A>G ENSP00000417050.1:n.171+378144A>G
NM_000397.3:c.1151+14A>G , LRG_53t1:c.1151+14A>G NP_000388.2:n.1151+14A>G
XM_011543890.1:c.845+14A>G XP_011542192.1:n.845+14A>G
NM_000397.4:c.1151+14A>G MANE Select NP_000388.2:n.1151+14A>G
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