Canonical Allele Identifier: CA412977256

Gene: CYBB

Linked Data

• dbSNP Id: rs1556470794
• gnomAD v3: X-37803985-G-C
• gnomAD v4: X-37803985-G-C
• MyVariant Identifiers: chrX:g.37663238G>C (hg19) ; chrX:g.37803985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803985G>C , CM000685.2:g.37803985G>C	GRCh38
NC_000023.10:g.37663238G>C , CM000685.1:g.37663238G>C	GRCh37
NC_000023.9:g.37548182G>C	NCBI36
NG_009065.1:g.28969G>C , LRG_53:g.28969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*515G>C	ENSP00000512461.1:n.*515G>C
ENST00000696171.1:c.910G>C	ENSP00000512462.1:p.Glu304Gln
ENST00000378588.5:c.1006G>C MANE Select	ENSP00000367851.4:p.Glu336Gln
ENST00000378588.4:c.1006G>C	ENSP00000367851.4:p.Glu336Gln
ENST00000465127.1:c.171+377985G>C	ENSP00000417050.1:n.171+377985G>C
ENST00000492288.1:n.431G>C
NM_000397.3:c.1006G>C , LRG_53t1:c.1006G>C	NP_000388.2:p.Glu336Gln
XM_011543890.1:c.700G>C	XP_011542192.1:p.Glu234Gln
NM_000397.4:c.1006G>C MANE Select	NP_000388.2:p.Glu336Gln