Canonical Allele Identifier: CA219743
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 68405
ClinVar RCV Id: RCV000059272
dbSNP Id: rs151344464

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796135G>T , CM000685.2:g.37796135G>T GRCh38
NC_000023.10:g.37655388G>T , CM000685.1:g.37655388G>T GRCh37
NC_000023.9:g.37540328G>T NCBI36
NG_009065.1:g.21115G>T , LRG_53:g.21115G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*177G>T ENSP00000512461.1:n.*177G>T
ENST00000696171.1:c.572G>T ENSP00000512462.1:p.Gly191Val
ENST00000696172.1:c.338-2820G>T ENSP00000512463.1:n.338-2820G>T
ENST00000378588.5:c.668G>T MANE Select ENSP00000367851.4:p.Gly223Val
ENST00000378588.4:c.668G>T ENSP00000367851.4:p.Gly223Val
ENST00000465127.1:c.171+370135G>T ENSP00000417050.1:n.171+370135G>T
NM_000397.3:c.668G>T , LRG_53t1:c.668G>T NP_000388.2:p.Gly223Val
XM_011543890.1:c.362G>T XP_011542192.1:p.Gly121Val
NM_000397.4:c.668G>T MANE Select NP_000388.2:p.Gly223Val