Canonical Allele Identifier: CA9316369
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 729453
ClinVar RCV Id: RCV000904109
dbSNP Id: rs759913580
ExAC: 19:18896645 G / A
gnomAD v2: 19-18896645-G-A
gnomAD v3: 19-18785835-G-A
gnomAD v4: 19-18785835-G-A
MyVariant Identifiers: chr19:g.18896645G>A (hg19) chr19:g.18785835G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785835G>A , CM000681.2:g.18785835G>A GRCh38
NC_000019.9:g.18896645G>A , CM000681.1:g.18896645G>A GRCh37
NC_000019.8:g.18757645G>A NCBI36
NG_007070.1:g.10470C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1506C>T MANE Select ENSP00000222271.2:p.Asp502=
ENST00000222271.6:c.1506C>T ENSP00000222271.2:p.Asp502=
ENST00000425807.1:c.1347C>T ENSP00000403792.1:p.Asp449=
ENST00000542601.6:c.1407C>T ENSP00000439156.2:p.Asp469=
NM_000095.2:c.1506C>T NP_000086.2:p.Asp502=
NM_000095.3:c.1506C>T MANE Select NP_000086.2:p.Asp502=
Search 100 bp 5'
Search 100 bp 3'