Canonical Allele Identifier: CA2693426374

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2980388
• ClinVar RCV Id: RCV003837562
• gnomAD v4: X-37801244-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37801244C>T , CM000685.2:g.37801244C>T	GRCh38
NC_000023.10:g.37660497C>T , CM000685.1:g.37660497C>T	GRCh37
NC_000023.9:g.37545437C>T	NCBI36
NG_009065.1:g.26224C>T , LRG_53:g.26224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*314-12C>T	ENSP00000512461.1:n.*314-12C>T
ENST00000696171.1:c.709-12C>T	ENSP00000512462.1:n.709-12C>T
ENST00000696172.1:c.*81-12C>T	ENSP00000512463.1:n.*81-12C>T
ENST00000378588.5:c.805-12C>T MANE Select	ENSP00000367851.4:n.805-12C>T
ENST00000378588.4:c.805-12C>T	ENSP00000367851.4:n.805-12C>T
ENST00000465127.1:c.171+375244C>T	ENSP00000417050.1:n.171+375244C>T
ENST00000492288.1:n.230-12C>T
NM_000397.3:c.805-12C>T , LRG_53t1:c.805-12C>T	NP_000388.2:n.805-12C>T
XM_011543890.1:c.499-12C>T	XP_011542192.1:n.499-12C>T
NM_000397.4:c.805-12C>T MANE Select	NP_000388.2:n.805-12C>T