Canonical Allele Identifier: CA9316214

Gene: COMP

Linked Data

• ClinVar Variation Id: 328611
• ClinVar RCV Id: RCV000312363 ; RCV000394504 ; RCV001850749 ; RCV002521198
• dbSNP Id: rs150534218
• ExAC: 19:18895109 G / C
• gnomAD v2: 19-18895109-G-C
• gnomAD v3: 19-18784299-G-C
• gnomAD v4: 19-18784299-G-C
• MyVariant Identifiers: chr19:g.18895109G>C (hg19) ; chr19:g.18784299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18784299G>C , CM000681.2:g.18784299G>C	GRCh38
NC_000019.9:g.18895109G>C , CM000681.1:g.18895109G>C	GRCh37
NC_000019.8:g.18756109G>C	NCBI36
NG_007070.1:g.12006C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1979C>G MANE Select	ENSP00000222271.2:p.Thr660Arg
ENST00000222271.6:c.1979C>G	ENSP00000222271.2:p.Thr660Arg
ENST00000425807.1:c.1820C>G	ENSP00000403792.1:p.Thr607Arg
ENST00000542601.6:c.1880C>G	ENSP00000439156.2:p.Thr627Arg
NM_000095.2:c.1979C>G	NP_000086.2:p.Thr660Arg
NM_000095.3:c.1979C>G MANE Select	NP_000086.2:p.Thr660Arg