Canonical Allele Identifier: CA412976609

Gene: CYBB

Linked Data

• gnomAD v4: X-37799021-A-C
• MyVariant Identifiers: chrX:g.37658274A>C (hg19) ; chrX:g.37799021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799021A>C , CM000685.2:g.37799021A>C	GRCh38
NC_000023.10:g.37658274A>C , CM000685.1:g.37658274A>C	GRCh37
NC_000023.9:g.37543214A>C	NCBI36
NG_009065.1:g.24001A>C , LRG_53:g.24001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*250A>C	ENSP00000512461.1:n.*250A>C
ENST00000696171.1:c.645A>C	ENSP00000512462.1:p.Lys215Asn
ENST00000696172.1:c.*17A>C	ENSP00000512463.1:n.*17A>C
ENST00000378588.5:c.741A>C MANE Select	ENSP00000367851.4:p.Lys247Asn
ENST00000378588.4:c.741A>C	ENSP00000367851.4:p.Lys247Asn
ENST00000465127.1:c.171+373021A>C	ENSP00000417050.1:n.171+373021A>C
ENST00000492288.1:n.166A>C
NM_000397.3:c.741A>C , LRG_53t1:c.741A>C	NP_000388.2:p.Lys247Asn
XM_011543890.1:c.435A>C	XP_011542192.1:p.Lys145Asn
NM_000397.4:c.741A>C MANE Select	NP_000388.2:p.Lys247Asn