Canonical Allele Identifier: CA2499226678
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1156703
ClinVar RCV Id: RCV001499487
dbSNP Id: rs2146817022
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37803868A>G , CM000685.2:g.37803868A>G GRCh38
NC_000023.10:g.37663121A>G , CM000685.1:g.37663121A>G GRCh37
NC_000023.9:g.37548065A>G NCBI36
NG_009065.1:g.28852A>G , LRG_53:g.28852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*407-9A>G ENSP00000512461.1:n.*407-9A>G
ENST00000696171.1:c.802-9A>G ENSP00000512462.1:n.802-9A>G
ENST00000378588.5:c.898-9A>G MANE Select ENSP00000367851.4:n.898-9A>G
ENST00000378588.4:c.898-9A>G ENSP00000367851.4:n.898-9A>G
ENST00000465127.1:c.171+377868A>G ENSP00000417050.1:n.171+377868A>G
ENST00000492288.1:n.323-9A>G
NM_000397.3:c.898-9A>G , LRG_53t1:c.898-9A>G NP_000388.2:n.898-9A>G
XM_011543890.1:c.592-9A>G XP_011542192.1:n.592-9A>G
NM_000397.4:c.898-9A>G MANE Select NP_000388.2:n.898-9A>G
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