Canonical Allele Identifier: CA2693425763

Gene: CYBB

Linked Data

• dbSNP Id: rs2146804223
• gnomAD v4: X-37783725-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783725C>G , CM000685.2:g.37783725C>G	GRCh38
NC_000023.10:g.37642978C>G , CM000685.1:g.37642978C>G	GRCh37
NC_000023.9:g.37527922C>G	NCBI36
NG_009065.1:g.8709C>G , LRG_53:g.8709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.252+125C>G	ENSP00000512461.1:n.252+125C>G
ENST00000696171.1:c.156+125C>G	ENSP00000512462.1:n.156+125C>G
ENST00000696172.1:c.252+125C>G	ENSP00000512463.1:n.252+125C>G
ENST00000696173.1:n.260+125C>G
ENST00000378588.5:c.252+125C>G MANE Select	ENSP00000367851.4:n.252+125C>G
ENST00000378588.4:c.252+125C>G	ENSP00000367851.4:n.252+125C>G
ENST00000465127.1:c.171+357725C>G	ENSP00000417050.1:n.171+357725C>G
NM_000397.3:c.252+125C>G , LRG_53t1:c.252+125C>G	NP_000388.2:n.252+125C>G
XM_011543890.1:c.-179+125C>G	XP_011542192.1:n.-179+125C>G
NM_000397.4:c.252+125C>G MANE Select	NP_000388.2:n.252+125C>G