Canonical Allele Identifier: CA9316343
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2992629
ClinVar RCV Id: RCV003857740
dbSNP Id: rs566112479
ExAC: 19:18896519 G / C
gnomAD v2: 19-18896519-G-C
gnomAD v4: 19-18785709-G-C
MyVariant Identifiers: chr19:g.18896519G>C (hg19) chr19:g.18785709G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785709G>C , CM000681.2:g.18785709G>C GRCh38
NC_000019.9:g.18896519G>C , CM000681.1:g.18896519G>C GRCh37
NC_000019.8:g.18757519G>C NCBI36
NG_007070.1:g.10596C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1632C>G MANE Select ENSP00000222271.2:p.Asp544Glu
ENST00000222271.6:c.1632C>G ENSP00000222271.2:p.Asp544Glu
ENST00000425807.1:c.1473C>G ENSP00000403792.1:p.Asp491Glu
ENST00000542601.6:c.1533C>G ENSP00000439156.2:p.Asp511Glu
NM_000095.2:c.1632C>G NP_000086.2:p.Asp544Glu
NM_000095.3:c.1632C>G MANE Select NP_000086.2:p.Asp544Glu
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