Canonical Allele Identifier: CA875138896

Gene: CYBB

Linked Data

• ClinVar Variation Id: 636834
• ClinVar RCV Id: RCV000788778 ; RCV001496301
• dbSNP Id: rs1377275293
• gnomAD v3: X-37804999-C-T
• gnomAD v4: X-37804999-C-T
• MyVariant Identifiers: chrX:g.37804999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804999C>T , CM000685.2:g.37804999C>T	GRCh38
NC_000023.10:g.37664252C>T , CM000685.1:g.37664252C>T	GRCh37
NC_000023.9:g.37549196C>T	NCBI36
NG_009065.1:g.29983C>T , LRG_53:g.29983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*661-7C>T	ENSP00000512461.1:n.*661-7C>T
ENST00000696171.1:c.1056-7C>T	ENSP00000512462.1:n.1056-7C>T
ENST00000378588.5:c.1152-7C>T MANE Select	ENSP00000367851.4:n.1152-7C>T
ENST00000378588.4:c.1152-7C>T	ENSP00000367851.4:n.1152-7C>T
ENST00000465127.1:c.171+378999C>T	ENSP00000417050.1:n.171+378999C>T
NM_000397.3:c.1152-7C>T , LRG_53t1:c.1152-7C>T	NP_000388.2:n.1152-7C>T
XM_011543890.1:c.846-7C>T	XP_011542192.1:n.846-7C>T
NM_000397.4:c.1152-7C>T MANE Select	NP_000388.2:n.1152-7C>T