Canonical Allele Identifier: CA640896487

Gene: CYBB

Linked Data

• dbSNP Id: rs1204695625
• gnomAD v2: X-37664185-A-G
• gnomAD v3: X-37804932-A-G
• gnomAD v4: X-37804932-A-G
• MyVariant Identifiers: chrX:g.37664185A>G (hg19) ; chrX:g.37804932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804932A>G , CM000685.2:g.37804932A>G	GRCh38
NC_000023.10:g.37664185A>G , CM000685.1:g.37664185A>G	GRCh37
NC_000023.9:g.37549129A>G	NCBI36
NG_009065.1:g.29916A>G , LRG_53:g.29916A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*661-74A>G	ENSP00000512461.1:n.*661-74A>G
ENST00000696171.1:c.1056-74A>G	ENSP00000512462.1:n.1056-74A>G
ENST00000378588.5:c.1152-74A>G MANE Select	ENSP00000367851.4:n.1152-74A>G
ENST00000378588.4:c.1152-74A>G	ENSP00000367851.4:n.1152-74A>G
ENST00000465127.1:c.171+378932A>G	ENSP00000417050.1:n.171+378932A>G
NM_000397.3:c.1152-74A>G , LRG_53t1:c.1152-74A>G	NP_000388.2:n.1152-74A>G
XM_011543890.1:c.846-74A>G	XP_011542192.1:n.846-74A>G
NM_000397.4:c.1152-74A>G MANE Select	NP_000388.2:n.1152-74A>G