Canonical Allele Identifier: CA10383769

Gene: CYBB

Linked Data

• ClinVar Variation Id: 643505
• ClinVar RCV Id: RCV000797216 ; RCV001090906 ; RCV001825558 ; RCV002495053
• dbSNP Id: rs782096963
• ExAC: X:37655382 T / C
• gnomAD v2: X-37655382-T-C
• gnomAD v3: X-37796129-T-C
• gnomAD v4: X-37796129-T-C
• MyVariant Identifiers: chrX:g.37655382T>C (hg19) ; chrX:g.37796129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796129T>C , CM000685.2:g.37796129T>C	GRCh38
NC_000023.10:g.37655382T>C , CM000685.1:g.37655382T>C	GRCh37
NC_000023.9:g.37540322T>C	NCBI36
NG_009065.1:g.21109T>C , LRG_53:g.21109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*171T>C	ENSP00000512461.1:n.*171T>C
ENST00000696171.1:c.566T>C	ENSP00000512462.1:p.Ile189Thr
ENST00000696172.1:c.338-2826T>C	ENSP00000512463.1:n.338-2826T>C
ENST00000378588.5:c.662T>C MANE Select	ENSP00000367851.4:p.Ile221Thr
ENST00000378588.4:c.662T>C	ENSP00000367851.4:p.Ile221Thr
ENST00000465127.1:c.171+370129T>C	ENSP00000417050.1:n.171+370129T>C
NM_000397.3:c.662T>C , LRG_53t1:c.662T>C	NP_000388.2:p.Ile221Thr
XM_011543890.1:c.356T>C	XP_011542192.1:p.Ile119Thr
NM_000397.4:c.662T>C MANE Select	NP_000388.2:p.Ile221Thr