Canonical Allele Identifier: CA2583622662

Gene: COMP

Linked Data

• gnomAD v4: 19-18787707-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787707C>A , CM000681.2:g.18787707C>A	GRCh38
NC_000019.9:g.18898516C>A , CM000681.1:g.18898516C>A	GRCh37
NC_000019.8:g.18759516C>A	NCBI36
NG_007070.1:g.8599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-57G>T MANE Select	ENSP00000222271.2:n.976-57G>T
ENST00000222271.6:c.976-57G>T	ENSP00000222271.2:n.976-57G>T
ENST00000425807.1:c.817-57G>T	ENSP00000403792.1:n.817-57G>T
ENST00000542601.6:c.877-57G>T	ENSP00000439156.2:n.877-57G>T
NM_000095.2:c.976-57G>T	NP_000086.2:n.976-57G>T
NM_000095.3:c.976-57G>T MANE Select	NP_000086.2:n.976-57G>T