Canonical Allele Identifier: CA14461199
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342820
ClinVar RCV Id: RCV001840931
dbSNP Id: rs76644821
gnomAD v2: 17-14112055-G-A
gnomAD v3: 17-14208738-G-A
gnomAD v4: 17-14208738-G-A
MyVariant Identifiers: chr17:g.14112055G>A (hg19) chr17:g.14208738G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208738G>A , CM000679.2:g.14208738G>A GRCh38
NC_000017.10:g.14112055G>A , CM000679.1:g.14112055G>A GRCh37
NC_000017.9:g.14052780G>A NCBI36
NG_008034.1:g.144337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*240G>A ENSP00000499396.1:n.*240G>A
ENST00000670279.1:c.929-771G>A ENSP00000499450.1:n.929-771G>A
XR_933974.1:n.1032-771G>A
Search 100 bp 5'
Search 100 bp 3'