Canonical Allele Identifier: CA288082305
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342116
ClinVar RCV Id: RCV001837706
dbSNP Id: rs115918379
gnomAD v2: 17-14112133-A-G
gnomAD v3: 17-14208816-A-G
gnomAD v4: 17-14208816-A-G
MyVariant Identifiers: chr17:g.14112133A>G (hg19) chr17:g.14208816A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208816A>G , CM000679.2:g.14208816A>G GRCh38
NC_000017.10:g.14112133A>G , CM000679.1:g.14112133A>G GRCh37
NC_000017.9:g.14052858A>G NCBI36
NG_008034.1:g.144415A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+37A>G ENSP00000499396.1:n.*281+37A>G
ENST00000670279.1:c.929-693A>G ENSP00000499450.1:n.929-693A>G
XR_933974.1:n.1032-693A>G
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