Canonical Allele Identifier: CA9316792

Gene: COMP

Linked Data

• ClinVar Variation Id: 497722
• ClinVar RCV Id: RCV000592194 ; RCV001127818 ; RCV001127817
• dbSNP Id: rs542886784
• ExAC: 19:18900938 G / T
• gnomAD v2: 19-18900938-G-T
• gnomAD v3: 19-18790129-G-T
• gnomAD v4: 19-18790129-G-T
• MyVariant Identifiers: chr19:g.18900938G>T (hg19) ; chr19:g.18790129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18790129G>T , CM000681.2:g.18790129G>T	GRCh38
NC_000019.9:g.18900938G>T , CM000681.1:g.18900938G>T	GRCh37
NC_000019.8:g.18761938G>T	NCBI36
NG_007070.1:g.6177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.218-15C>A MANE Select	ENSP00000222271.2:n.218-15C>A
ENST00000222271.6:c.218-15C>A	ENSP00000222271.2:n.218-15C>A
ENST00000425807.1:c.218-15C>A	ENSP00000403792.1:n.218-15C>A
ENST00000542601.6:c.119-15C>A	ENSP00000439156.2:n.119-15C>A
NM_000095.2:c.218-15C>A	NP_000086.2:n.218-15C>A
NM_000095.3:c.218-15C>A MANE Select	NP_000086.2:n.218-15C>A