Canonical Allele Identifier: CA515669203
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1089765
ClinVar RCV Id: RCV001408691
dbSNP Id: rs1347241869
gnomAD v3: X-37783561-C-T
gnomAD v4: X-37783561-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783561C>T , CM000685.2:g.37783561C>T GRCh38
NC_000023.10:g.37642814C>T , CM000685.1:g.37642814C>T GRCh37
NC_000023.9:g.37527758C>T NCBI36
NG_009065.1:g.8545C>T , LRG_53:g.8545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.213C>T ENSP00000512461.1:p.Val71=
ENST00000696171.1:c.117C>T ENSP00000512462.1:p.Val39=
ENST00000696172.1:c.213C>T ENSP00000512463.1:p.Val71=
ENST00000696173.1:n.221C>T
ENST00000378588.5:c.213C>T MANE Select ENSP00000367851.4:p.Val71=
ENST00000378588.4:c.213C>T ENSP00000367851.4:p.Val71=
ENST00000465127.1:c.171+357561C>T ENSP00000417050.1:n.171+357561C>T
NM_000397.3:c.213C>T , LRG_53t1:c.213C>T NP_000388.2:p.Val71=
XM_011543890.1:c.-218C>T XP_011542192.1:n.-218C>T
NM_000397.4:c.213C>T MANE Select NP_000388.2:p.Val71=