Canonical Allele Identifier: CA10383844
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs782492839
gnomAD v2: X-37664259-G-T
gnomAD v3: X-37805006-G-T
gnomAD v4: X-37805006-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805006G>T , CM000685.2:g.37805006G>T GRCh38
NC_000023.10:g.37664259G>T , CM000685.1:g.37664259G>T GRCh37
NC_000023.9:g.37549203G>T NCBI36
NG_009065.1:g.29990G>T , LRG_53:g.29990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*661G>T ENSP00000512461.1:n.*661G>T
ENST00000696171.1:c.1056G>T ENSP00000512462.1:p.Lys352Asn
ENST00000378588.5:c.1152G>T MANE Select ENSP00000367851.4:p.Lys384Asn
ENST00000378588.4:c.1152G>T ENSP00000367851.4:p.Lys384Asn
ENST00000465127.1:c.171+379006G>T ENSP00000417050.1:n.171+379006G>T
NM_000397.3:c.1152G>T , LRG_53t1:c.1152G>T NP_000388.2:p.Lys384Asn
XM_011543890.1:c.846G>T XP_011542192.1:p.Lys282Asn
NM_000397.4:c.1152G>T MANE Select NP_000388.2:p.Lys384Asn