Canonical Allele Identifier: CA10383769
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 643505
dbSNP Id: rs782096963
gnomAD v2: X-37655382-T-C
gnomAD v3: X-37796129-T-C
gnomAD v4: X-37796129-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796129T>C , CM000685.2:g.37796129T>C GRCh38
NC_000023.10:g.37655382T>C , CM000685.1:g.37655382T>C GRCh37
NC_000023.9:g.37540322T>C NCBI36
NG_009065.1:g.21109T>C , LRG_53:g.21109T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*171T>C ENSP00000512461.1:n.*171T>C
ENST00000696171.1:c.566T>C ENSP00000512462.1:p.Ile189Thr
ENST00000696172.1:c.338-2826T>C ENSP00000512463.1:n.338-2826T>C
ENST00000378588.5:c.662T>C MANE Select ENSP00000367851.4:p.Ile221Thr
ENST00000378588.4:c.662T>C ENSP00000367851.4:p.Ile221Thr
ENST00000465127.1:c.171+370129T>C ENSP00000417050.1:n.171+370129T>C
NM_000397.3:c.662T>C , LRG_53t1:c.662T>C NP_000388.2:p.Ile221Thr
XM_011543890.1:c.356T>C XP_011542192.1:p.Ile119Thr
NM_000397.4:c.662T>C MANE Select NP_000388.2:p.Ile221Thr