Canonical Allele Identifier: CA2740092097

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2975252
• ClinVar RCV Id: RCV003830858

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796155T>C , CM000685.2:g.37796155T>C	GRCh38
NC_000023.10:g.37655408T>C , CM000685.1:g.37655408T>C	GRCh37
NC_000023.9:g.37540348T>C	NCBI36
NG_009065.1:g.21135T>C , LRG_53:g.21135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*183+14T>C	ENSP00000512461.1:n.*183+14T>C
ENST00000696171.1:c.578+14T>C	ENSP00000512462.1:n.578+14T>C
ENST00000696172.1:c.338-2800T>C	ENSP00000512463.1:n.338-2800T>C
ENST00000378588.5:c.674+14T>C MANE Select	ENSP00000367851.4:n.674+14T>C
ENST00000378588.4:c.674+14T>C	ENSP00000367851.4:n.674+14T>C
ENST00000465127.1:c.171+370155T>C	ENSP00000417050.1:n.171+370155T>C
NM_000397.3:c.674+14T>C , LRG_53t1:c.674+14T>C	NP_000388.2:n.674+14T>C
XM_011543890.1:c.368+14T>C	XP_011542192.1:n.368+14T>C
NM_000397.4:c.674+14T>C MANE Select	NP_000388.2:n.674+14T>C