Canonical Allele Identifier: CA658659019
Gene: COX7B HGNC NCBI

Linked Data

ClinVar Variation Id: 449642
ClinVar RCV Id: RCV000522766
dbSNP Id: rs1557220472
MyVariant Identifiers: chrX:g.77155095G>C (hg19) chrX:g.77899598G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77899598G>C , CM000685.2:g.77899598G>C GRCh38
NC_000023.10:g.77155095G>C , CM000685.1:g.77155095G>C GRCh37
NC_000023.9:g.77041751G>C NCBI36
NG_016390.1:g.971C>G , LRG_353:g.971C>G
NG_033027.1:g.5135G>C
NG_033027.2:g.5135G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373335.4:c.-145+5G>C ENSP00000496880.1:n.-145+5G>C
ENST00000647835.1:c.40+5G>C ENSP00000497517.1:n.40+5G>C
ENST00000650309.2:c.40+5G>C MANE Select ENSP00000497474.1:n.40+5G>C
ENST00000373335.3:n.156+5G>C
ENST00000475465.1:n.131+5G>C
ENST00000481445.1:c.40+5G>C ENSP00000417656.1:n.40+5G>C
NM_001866.2:c.40+5G>C NP_001857.1:n.40+5G>C
NM_001866.3:c.40+5G>C MANE Select NP_001857.1:n.40+5G>C
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