Canonical Allele Identifier: CA10383822
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 716689
ClinVar RCV Id: RCV000889369 RCV001271687
dbSNP Id: rs782193225
ExAC: X:37663264 C / G
gnomAD v2: X-37663264-C-G
gnomAD v3: X-37804011-C-G
gnomAD v4: X-37804011-C-G
MyVariant Identifiers: chrX:g.37663264C>G (hg19) chrX:g.37804011C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804011C>G , CM000685.2:g.37804011C>G GRCh38
NC_000023.10:g.37663264C>G , CM000685.1:g.37663264C>G GRCh37
NC_000023.9:g.37548208C>G NCBI36
NG_009065.1:g.28995C>G , LRG_53:g.28995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*541C>G ENSP00000512461.1:n.*541C>G
ENST00000696171.1:c.936C>G ENSP00000512462.1:p.Ser312=
ENST00000378588.5:c.1032C>G MANE Select ENSP00000367851.4:p.Ser344=
ENST00000378588.4:c.1032C>G ENSP00000367851.4:p.Ser344=
ENST00000465127.1:c.171+378011C>G ENSP00000417050.1:n.171+378011C>G
ENST00000492288.1:n.457C>G
NM_000397.3:c.1032C>G , LRG_53t1:c.1032C>G NP_000388.2:p.Ser344=
XM_011543890.1:c.726C>G XP_011542192.1:p.Ser242=
NM_000397.4:c.1032C>G MANE Select NP_000388.2:p.Ser344=
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