Canonical Allele Identifier: CA1132392938

Gene: CYBB

Linked Data

• dbSNP Id: rs1209296710
• gnomAD v3: X-37804924-C-T
• gnomAD v4: X-37804924-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804924C>T , CM000685.2:g.37804924C>T	GRCh38
NC_000023.10:g.37664177C>T , CM000685.1:g.37664177C>T	GRCh37
NC_000023.9:g.37549121C>T	NCBI36
NG_009065.1:g.29908C>T , LRG_53:g.29908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*661-82C>T	ENSP00000512461.1:n.*661-82C>T
ENST00000696171.1:c.1056-82C>T	ENSP00000512462.1:n.1056-82C>T
ENST00000378588.5:c.1152-82C>T MANE Select	ENSP00000367851.4:n.1152-82C>T
ENST00000378588.4:c.1152-82C>T	ENSP00000367851.4:n.1152-82C>T
ENST00000465127.1:c.171+378924C>T	ENSP00000417050.1:n.171+378924C>T
NM_000397.3:c.1152-82C>T , LRG_53t1:c.1152-82C>T	NP_000388.2:n.1152-82C>T
XM_011543890.1:c.846-82C>T	XP_011542192.1:n.846-82C>T
NM_000397.4:c.1152-82C>T MANE Select	NP_000388.2:n.1152-82C>T