Canonical Allele Identifier: CA10458651
Gene: COX7B HGNC NCBI

Linked Data

ClinVar Variation Id: 423717
ClinVar RCV Id: RCV000484569
dbSNP Id: rs370681452
ExAC: X:77155057 C / G
gnomAD v2: X-77155057-C-G
gnomAD v3: X-77899560-C-G
gnomAD v4: X-77899560-C-G
MyVariant Identifiers: chrX:g.77155057C>G (hg19) chrX:g.77899560C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77899560C>G , CM000685.2:g.77899560C>G GRCh38
NC_000023.10:g.77155057C>G , CM000685.1:g.77155057C>G GRCh37
NC_000023.9:g.77041713C>G NCBI36
NG_016390.1:g.1009G>C , LRG_353:g.1009G>C
NG_033027.1:g.5097C>G
NG_033027.2:g.5097C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373335.4:c.-178C>G ENSP00000496880.1:n.-178C>G
ENST00000647835.1:c.7C>G ENSP00000497517.1:p.Pro3Ala
ENST00000650309.2:c.7C>G MANE Select ENSP00000497474.1:p.Pro3Ala
ENST00000373335.3:n.123C>G
ENST00000475465.1:n.98C>G
ENST00000481445.1:c.7C>G ENSP00000417656.1:p.Pro3Ala
NM_001866.2:c.7C>G NP_001857.1:p.Pro3Ala
NM_001866.3:c.7C>G MANE Select NP_001857.1:p.Pro3Ala
Search 100 bp 5'
Search 100 bp 3'