Canonical Allele Identifier: CA412975615

Gene: CYBB

Linked Data

• ClinVar Variation Id: 430197
• ClinVar RCV Id: RCV000493750 ; RCV001274390 ; RCV001293538
• dbSNP Id: rs1131691828
• MyVariant Identifiers: chrX:g.37653064G>T (hg19) ; chrX:g.37793811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37793811G>T , CM000685.2:g.37793811G>T	GRCh38
NC_000023.10:g.37653064G>T , CM000685.1:g.37653064G>T	GRCh37
NC_000023.9:g.37538004G>T	NCBI36
NG_009065.1:g.18791G>T , LRG_53:g.18791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.337+1752G>T	ENSP00000512461.1:n.337+1752G>T
ENST00000696171.1:c.387+1G>T	ENSP00000512462.1:n.387+1G>T
ENST00000696172.1:c.337+1752G>T	ENSP00000512463.1:n.337+1752G>T
ENST00000378588.5:c.483+1G>T MANE Select	ENSP00000367851.4:n.483+1G>T
ENST00000378588.4:c.483+1G>T	ENSP00000367851.4:n.483+1G>T
ENST00000465127.1:c.171+367811G>T	ENSP00000417050.1:n.171+367811G>T
NM_000397.3:c.483+1G>T , LRG_53t1:c.483+1G>T	NP_000388.2:n.483+1G>T
XM_011543890.1:c.177+1G>T	XP_011542192.1:n.177+1G>T
NM_000397.4:c.483+1G>T MANE Select	NP_000388.2:n.483+1G>T