Canonical Allele Identifier: CA9316544

Gene: COMP

Linked Data

• ClinVar Variation Id: 2863294
• ClinVar RCV Id: RCV003702227
• dbSNP Id: rs748999247
• ExAC: 19:18898335 C / T
• gnomAD v2: 19-18898335-C-T
• gnomAD v3: 19-18787526-C-T
• gnomAD v4: 19-18787526-C-T
• MyVariant Identifiers: chr19:g.18898335C>T (hg19) ; chr19:g.18787526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787526C>T , CM000681.2:g.18787526C>T	GRCh38
NC_000019.9:g.18898335C>T , CM000681.1:g.18898335C>T	GRCh37
NC_000019.8:g.18759335C>T	NCBI36
NG_007070.1:g.8780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1100G>A MANE Select	ENSP00000222271.2:p.Arg367Gln
ENST00000222271.6:c.1100G>A	ENSP00000222271.2:p.Arg367Gln
ENST00000425807.1:c.941G>A	ENSP00000403792.1:p.Arg314Gln
ENST00000542601.6:c.1001G>A	ENSP00000439156.2:p.Arg334Gln
NM_000095.2:c.1100G>A	NP_000086.2:p.Arg367Gln
NM_000095.3:c.1100G>A MANE Select	NP_000086.2:p.Arg367Gln