Canonical Allele Identifier: CA10642487

Gene: COMP

Linked Data

• ClinVar Variation Id: 328618
• ClinVar RCV Id: RCV000291667 ; RCV000346603 ; RCV003765904
• dbSNP Id: rs886054303
• gnomAD v2: 19-18899329-G-C
• gnomAD v3: 19-18788520-G-C
• gnomAD v4: 19-18788520-G-C
• MyVariant Identifiers: chr19:g.18899329G>C (hg19) ; chr19:g.18788520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18788520G>C , CM000681.2:g.18788520G>C	GRCh38
NC_000019.9:g.18899329G>C , CM000681.1:g.18899329G>C	GRCh37
NC_000019.8:g.18760329G>C	NCBI36
NG_007070.1:g.7786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.763-6C>G MANE Select	ENSP00000222271.2:n.763-6C>G
ENST00000222271.6:c.763-6C>G	ENSP00000222271.2:n.763-6C>G
ENST00000425807.1:c.604-6C>G	ENSP00000403792.1:n.604-6C>G
ENST00000542601.6:c.664-6C>G	ENSP00000439156.2:n.664-6C>G
NM_000095.2:c.763-6C>G	NP_000086.2:n.763-6C>G
NM_000095.3:c.763-6C>G MANE Select	NP_000086.2:n.763-6C>G