Canonical Allele Identifier: CA9316788

Gene: COMP

Linked Data

• ClinVar Variation Id: 328626
• ClinVar RCV Id: RCV000287404 ; RCV000342349 ; RCV000508522 ; RCV001521071 ; RCV003957684
• dbSNP Id: rs554031979
• ExAC: 19:18900930 G / C
• gnomAD v2: 19-18900930-G-C
• gnomAD v3: 19-18790121-G-C
• gnomAD v4: 19-18790121-G-C
• MyVariant Identifiers: chr19:g.18900930G>C (hg19) ; chr19:g.18790121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18790121G>C , CM000681.2:g.18790121G>C	GRCh38
NC_000019.9:g.18900930G>C , CM000681.1:g.18900930G>C	GRCh37
NC_000019.8:g.18761930G>C	NCBI36
NG_007070.1:g.6185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.218-7C>G MANE Select	ENSP00000222271.2:n.218-7C>G
ENST00000222271.6:c.218-7C>G	ENSP00000222271.2:n.218-7C>G
ENST00000425807.1:c.218-7C>G	ENSP00000403792.1:n.218-7C>G
ENST00000542601.6:c.119-7C>G	ENSP00000439156.2:n.119-7C>G
NM_000095.2:c.218-7C>G	NP_000086.2:n.218-7C>G
NM_000095.3:c.218-7C>G MANE Select	NP_000086.2:n.218-7C>G