Canonical Allele Identifier: CA412976412

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2040251
• ClinVar RCV Id: RCV002886330
• dbSNP Id: rs2146811839
• MyVariant Identifiers: chrX:g.37655370T>C (hg19) ; chrX:g.37796117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796117T>C , CM000685.2:g.37796117T>C	GRCh38
NC_000023.10:g.37655370T>C , CM000685.1:g.37655370T>C	GRCh37
NC_000023.9:g.37540310T>C	NCBI36
NG_009065.1:g.21097T>C , LRG_53:g.21097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*159T>C	ENSP00000512461.1:n.*159T>C
ENST00000696171.1:c.554T>C	ENSP00000512462.1:p.Ile185Thr
ENST00000696172.1:c.338-2838T>C	ENSP00000512463.1:n.338-2838T>C
ENST00000378588.5:c.650T>C MANE Select	ENSP00000367851.4:p.Ile217Thr
ENST00000378588.4:c.650T>C	ENSP00000367851.4:p.Ile217Thr
ENST00000465127.1:c.171+370117T>C	ENSP00000417050.1:n.171+370117T>C
NM_000397.3:c.650T>C , LRG_53t1:c.650T>C	NP_000388.2:p.Ile217Thr
XM_011543890.1:c.344T>C	XP_011542192.1:p.Ile115Thr
NM_000397.4:c.650T>C MANE Select	NP_000388.2:p.Ile217Thr