Canonical Allele Identifier: CA10458644
Gene: COX7B HGNC NCBI

Linked Data

ClinVar Variation Id: 510669
ClinVar RCV Id: RCV000607719
dbSNP Id: rs782793919
ExAC: X:77155009 A / G
gnomAD v2: X-77155009-A-G
gnomAD v3: X-77899512-A-G
gnomAD v4: X-77899512-A-G
MyVariant Identifiers: chrX:g.77155009A>G (hg19) chrX:g.77899512A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77899512A>G , CM000685.2:g.77899512A>G GRCh38
NC_000023.10:g.77155009A>G , CM000685.1:g.77155009A>G GRCh37
NC_000023.9:g.77041665A>G NCBI36
NG_016390.1:g.1057T>C , LRG_353:g.1057T>C
NG_033027.1:g.5049A>G
NG_033027.2:g.5049A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373335.4:c.-226A>G ENSP00000496880.1:n.-226A>G
ENST00000647835.1:c.-42A>G ENSP00000497517.1:n.-42A>G
ENST00000650309.2:c.-42A>G MANE Select ENSP00000497474.1:n.-42A>G
ENST00000373335.3:n.75A>G
ENST00000475465.1:n.50A>G
ENST00000481445.1:c.-42A>G ENSP00000417656.1:n.-42A>G
NM_001866.2:c.-42A>G NP_001857.1:n.-42A>G
NM_001866.3:c.-42A>G MANE Select NP_001857.1:n.-42A>G
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