Canonical Allele Identifier: CA9316426

Gene: COMP

Linked Data

• ClinVar Variation Id: 890744
• ClinVar RCV Id: RCV001125546 ; RCV001125545
• dbSNP Id: rs766950514
• ExAC: 19:18896858 T / A
• gnomAD v2: 19-18896858-T-A
• gnomAD v4: 19-18786048-T-A
• MyVariant Identifiers: chr19:g.18896858T>A (hg19) ; chr19:g.18786048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786048T>A , CM000681.2:g.18786048T>A	GRCh38
NC_000019.9:g.18896858T>A , CM000681.1:g.18896858T>A	GRCh37
NC_000019.8:g.18757858T>A	NCBI36
NG_007070.1:g.10257A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1406A>T MANE Select	ENSP00000222271.2:p.Asp469Val
ENST00000222271.6:c.1406A>T	ENSP00000222271.2:p.Asp469Val
ENST00000425807.1:c.1247A>T	ENSP00000403792.1:p.Asp416Val
ENST00000542601.6:c.1307A>T	ENSP00000439156.2:p.Asp436Val
NM_000095.2:c.1406A>T	NP_000086.2:p.Asp469Val
NM_000095.3:c.1406A>T MANE Select	NP_000086.2:p.Asp469Val