Canonical Allele Identifier: CA10383747
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2967432
ClinVar RCV Id: RCV003824110
dbSNP Id: rs782057120
ExAC: X:37655193 A / G
gnomAD v2: X-37655193-A-G
gnomAD v3: X-37795940-A-G
gnomAD v4: X-37795940-A-G
MyVariant Identifiers: chrX:g.37655193A>G (hg19) chrX:g.37795940A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37795940A>G , CM000685.2:g.37795940A>G GRCh38
NC_000023.10:g.37655193A>G , CM000685.1:g.37655193A>G GRCh37
NC_000023.9:g.37540133A>G NCBI36
NG_009065.1:g.20920A>G , LRG_53:g.20920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.338-11A>G ENSP00000512461.1:n.338-11A>G
ENST00000696171.1:c.388-11A>G ENSP00000512462.1:n.388-11A>G
ENST00000696172.1:c.338-3015A>G ENSP00000512463.1:n.338-3015A>G
ENST00000378588.5:c.484-11A>G MANE Select ENSP00000367851.4:n.484-11A>G
ENST00000378588.4:c.484-11A>G ENSP00000367851.4:n.484-11A>G
ENST00000465127.1:c.171+369940A>G ENSP00000417050.1:n.171+369940A>G
NM_000397.3:c.484-11A>G , LRG_53t1:c.484-11A>G NP_000388.2:n.484-11A>G
XM_011543890.1:c.178-11A>G XP_011542192.1:n.178-11A>G
NM_000397.4:c.484-11A>G MANE Select NP_000388.2:n.484-11A>G
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