Canonical Allele Identifier: CA2326526244

Gene: COMP

Linked Data

• dbSNP Id: rs1301582565
• gnomAD v4: 19-18787712-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787712G>A , CM000681.2:g.18787712G>A	GRCh38
NC_000019.9:g.18898521G>A , CM000681.1:g.18898521G>A	GRCh37
NC_000019.8:g.18759521G>A	NCBI36
NG_007070.1:g.8594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-62C>T MANE Select	ENSP00000222271.2:n.976-62C>T
ENST00000222271.6:c.976-62C>T	ENSP00000222271.2:n.976-62C>T
ENST00000425807.1:c.817-62C>T	ENSP00000403792.1:n.817-62C>T
ENST00000542601.6:c.877-62C>T	ENSP00000439156.2:n.877-62C>T
NM_000095.2:c.976-62C>T	NP_000086.2:n.976-62C>T
NM_000095.3:c.976-62C>T MANE Select	NP_000086.2:n.976-62C>T