Canonical Allele Identifier: CA1132390638

Gene: CYBB

Linked Data

• dbSNP Id: rs1929305410
• gnomAD v3: X-37796199-G-A
• gnomAD v4: X-37796199-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796199G>A , CM000685.2:g.37796199G>A	GRCh38
NC_000023.10:g.37655452G>A , CM000685.1:g.37655452G>A	GRCh37
NC_000023.9:g.37540392G>A	NCBI36
NG_009065.1:g.21179G>A , LRG_53:g.21179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*183+58G>A	ENSP00000512461.1:n.*183+58G>A
ENST00000696171.1:c.578+58G>A	ENSP00000512462.1:n.578+58G>A
ENST00000696172.1:c.338-2756G>A	ENSP00000512463.1:n.338-2756G>A
ENST00000378588.5:c.674+58G>A MANE Select	ENSP00000367851.4:n.674+58G>A
ENST00000378588.4:c.674+58G>A	ENSP00000367851.4:n.674+58G>A
ENST00000465127.1:c.171+370199G>A	ENSP00000417050.1:n.171+370199G>A
NM_000397.3:c.674+58G>A , LRG_53t1:c.674+58G>A	NP_000388.2:n.674+58G>A
XM_011543890.1:c.368+58G>A	XP_011542192.1:n.368+58G>A
NM_000397.4:c.674+58G>A MANE Select	NP_000388.2:n.674+58G>A