Canonical Allele Identifier: CA10383834
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs782796941
gnomAD v2: X-37663409-C-T
gnomAD v4: X-37804156-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804156C>T , CM000685.2:g.37804156C>T GRCh38
NC_000023.10:g.37663409C>T , CM000685.1:g.37663409C>T GRCh37
NC_000023.9:g.37548353C>T NCBI36
NG_009065.1:g.29140C>T , LRG_53:g.29140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*660+26C>T ENSP00000512461.1:n.*660+26C>T
ENST00000696171.1:c.1055+26C>T ENSP00000512462.1:n.1055+26C>T
ENST00000378588.5:c.1151+26C>T MANE Select ENSP00000367851.4:n.1151+26C>T
ENST00000378588.4:c.1151+26C>T ENSP00000367851.4:n.1151+26C>T
ENST00000465127.1:c.171+378156C>T ENSP00000417050.1:n.171+378156C>T
NM_000397.3:c.1151+26C>T , LRG_53t1:c.1151+26C>T NP_000388.2:n.1151+26C>T
XM_011543890.1:c.845+26C>T XP_011542192.1:n.845+26C>T
NM_000397.4:c.1151+26C>T MANE Select NP_000388.2:n.1151+26C>T