Canonical Allele Identifier: CA10383670
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1166078
ClinVar RCV Id: RCV001513819
dbSNP Id: rs373947610
ExAC: X:37642737 T / C
gnomAD v2: X-37642737-T-C
gnomAD v3: X-37783484-T-C
gnomAD v4: X-37783484-T-C
MyVariant Identifiers: chrX:g.37642737T>C (hg19) chrX:g.37783484T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37783484T>C , CM000685.2:g.37783484T>C GRCh38
NC_000023.10:g.37642737T>C , CM000685.1:g.37642737T>C GRCh37
NC_000023.9:g.37527681T>C NCBI36
NG_009065.1:g.8468T>C , LRG_53:g.8468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.142-6T>C ENSP00000512461.1:n.142-6T>C
ENST00000696171.1:c.46-6T>C ENSP00000512462.1:n.46-6T>C
ENST00000696172.1:c.142-6T>C ENSP00000512463.1:n.142-6T>C
ENST00000696173.1:n.150-6T>C
ENST00000378588.5:c.142-6T>C MANE Select ENSP00000367851.4:n.142-6T>C
ENST00000378588.4:c.142-6T>C ENSP00000367851.4:n.142-6T>C
ENST00000465127.1:c.171+357484T>C ENSP00000417050.1:n.171+357484T>C
NM_000397.3:c.142-6T>C , LRG_53t1:c.142-6T>C NP_000388.2:n.142-6T>C
XM_011543890.1:c.-289-6T>C XP_011542192.1:n.-289-6T>C
NM_000397.4:c.142-6T>C MANE Select NP_000388.2:n.142-6T>C
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