Canonical Allele Identifier: CA10383676

Gene: CYBB

Linked Data

• ClinVar Variation Id: 991711
• ClinVar RCV Id: RCV001279970 ; RCV001522743
• dbSNP Id: rs782202693
• ExAC: X:37642817 T / C
• gnomAD v2: X-37642817-T-C
• gnomAD v3: X-37783564-T-C
• gnomAD v4: X-37783564-T-C
• MyVariant Identifiers: chrX:g.37642817T>C (hg19) ; chrX:g.37783564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783564T>C , CM000685.2:g.37783564T>C	GRCh38
NC_000023.10:g.37642817T>C , CM000685.1:g.37642817T>C	GRCh37
NC_000023.9:g.37527761T>C	NCBI36
NG_009065.1:g.8548T>C , LRG_53:g.8548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.216T>C	ENSP00000512461.1:p.Cys72=
ENST00000696171.1:c.120T>C	ENSP00000512462.1:p.Cys40=
ENST00000696172.1:c.216T>C	ENSP00000512463.1:p.Cys72=
ENST00000696173.1:n.224T>C
ENST00000378588.5:c.216T>C MANE Select	ENSP00000367851.4:p.Cys72=
ENST00000378588.4:c.216T>C	ENSP00000367851.4:p.Cys72=
ENST00000465127.1:c.171+357564T>C	ENSP00000417050.1:n.171+357564T>C
NM_000397.3:c.216T>C , LRG_53t1:c.216T>C	NP_000388.2:p.Cys72=
XM_011543890.1:c.-215T>C	XP_011542192.1:n.-215T>C
NM_000397.4:c.216T>C MANE Select	NP_000388.2:p.Cys72=