Canonical Allele Identifier: CA404877890

Gene: COMP

Linked Data

• ClinVar Variation Id: 1424736
• ClinVar RCV Id: RCV001923995 ; RCV004044244
• dbSNP Id: rs1464526978
• gnomAD v2: 19-18895738-G-A
• gnomAD v3: 19-18784928-G-A
• gnomAD v4: 19-18784928-G-A
• MyVariant Identifiers: chr19:g.18895738G>A (hg19) ; chr19:g.18784928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18784928G>A , CM000681.2:g.18784928G>A	GRCh38
NC_000019.9:g.18895738G>A , CM000681.1:g.18895738G>A	GRCh37
NC_000019.8:g.18756738G>A	NCBI36
NG_007070.1:g.11377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1882C>T MANE Select	ENSP00000222271.2:p.Arg628Cys
ENST00000222271.6:c.1882C>T	ENSP00000222271.2:p.Arg628Cys
ENST00000425807.1:c.1723C>T	ENSP00000403792.1:p.Arg575Cys
ENST00000542601.6:c.1783C>T	ENSP00000439156.2:p.Arg595Cys
NM_000095.2:c.1882C>T	NP_000086.2:p.Arg628Cys
NM_000095.3:c.1882C>T MANE Select	NP_000086.2:p.Arg628Cys