Canonical Allele Identifier: CA10383843
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2907878
ClinVar RCV Id: RCV003622160
dbSNP Id: rs782661052
ExAC: X:37664243 C / T
gnomAD v2: X-37664243-C-T
gnomAD v3: X-37804990-C-T
gnomAD v4: X-37804990-C-T
MyVariant Identifiers: chrX:g.37664243C>T (hg19) chrX:g.37804990C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804990C>T , CM000685.2:g.37804990C>T GRCh38
NC_000023.10:g.37664243C>T , CM000685.1:g.37664243C>T GRCh37
NC_000023.9:g.37549187C>T NCBI36
NG_009065.1:g.29974C>T , LRG_53:g.29974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*661-16C>T ENSP00000512461.1:n.*661-16C>T
ENST00000696171.1:c.1056-16C>T ENSP00000512462.1:n.1056-16C>T
ENST00000378588.5:c.1152-16C>T MANE Select ENSP00000367851.4:n.1152-16C>T
ENST00000378588.4:c.1152-16C>T ENSP00000367851.4:n.1152-16C>T
ENST00000465127.1:c.171+378990C>T ENSP00000417050.1:n.171+378990C>T
NM_000397.3:c.1152-16C>T , LRG_53t1:c.1152-16C>T NP_000388.2:n.1152-16C>T
XM_011543890.1:c.846-16C>T XP_011542192.1:n.846-16C>T
NM_000397.4:c.1152-16C>T MANE Select NP_000388.2:n.1152-16C>T
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