Canonical Allele Identifier: CA412977278

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2135668
• ClinVar RCV Id: RCV003059678
• MyVariant Identifiers: chrX:g.37663246C>G (hg19) ; chrX:g.37803993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803993C>G , CM000685.2:g.37803993C>G	GRCh38
NC_000023.10:g.37663246C>G , CM000685.1:g.37663246C>G	GRCh37
NC_000023.9:g.37548190C>G	NCBI36
NG_009065.1:g.28977C>G , LRG_53:g.28977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*523C>G	ENSP00000512461.1:n.*523C>G
ENST00000696171.1:c.918C>G	ENSP00000512462.1:p.His306Gln
ENST00000378588.5:c.1014C>G MANE Select	ENSP00000367851.4:p.His338Gln
ENST00000378588.4:c.1014C>G	ENSP00000367851.4:p.His338Gln
ENST00000465127.1:c.171+377993C>G	ENSP00000417050.1:n.171+377993C>G
ENST00000492288.1:n.439C>G
NM_000397.3:c.1014C>G , LRG_53t1:c.1014C>G	NP_000388.2:p.His338Gln
XM_011543890.1:c.708C>G	XP_011542192.1:p.His236Gln
NM_000397.4:c.1014C>G MANE Select	NP_000388.2:p.His338Gln