Canonical Allele Identifier: CA10383767
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs782161619
gnomAD v2: X-37655360-A-T
gnomAD v3: X-37796107-A-T
gnomAD v4: X-37796107-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796107A>T , CM000685.2:g.37796107A>T GRCh38
NC_000023.10:g.37655360A>T , CM000685.1:g.37655360A>T GRCh37
NC_000023.9:g.37540300A>T NCBI36
NG_009065.1:g.21087A>T , LRG_53:g.21087A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*149A>T ENSP00000512461.1:n.*149A>T
ENST00000696171.1:c.544A>T ENSP00000512462.1:p.Ile182Phe
ENST00000696172.1:c.338-2848A>T ENSP00000512463.1:n.338-2848A>T
ENST00000378588.5:c.640A>T MANE Select ENSP00000367851.4:p.Ile214Phe
ENST00000378588.4:c.640A>T ENSP00000367851.4:p.Ile214Phe
ENST00000465127.1:c.171+370107A>T ENSP00000417050.1:n.171+370107A>T
NM_000397.3:c.640A>T , LRG_53t1:c.640A>T NP_000388.2:p.Ile214Phe
XM_011543890.1:c.334A>T XP_011542192.1:p.Ile112Phe
NM_000397.4:c.640A>T MANE Select NP_000388.2:p.Ile214Phe