Canonical Allele Identifier: CA994238232

Gene: COMP

Linked Data

• gnomAD v3: 19-18787965-G-A
• gnomAD v4: 19-18787965-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787965G>A , CM000681.2:g.18787965G>A	GRCh38
NC_000019.9:g.18898774G>A , CM000681.1:g.18898774G>A	GRCh37
NC_000019.8:g.18759774G>A	NCBI36
NG_007070.1:g.8341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.975+247C>T MANE Select	ENSP00000222271.2:n.975+247C>T
ENST00000222271.6:c.975+247C>T	ENSP00000222271.2:n.975+247C>T
ENST00000425807.1:c.816+247C>T	ENSP00000403792.1:n.816+247C>T
ENST00000542601.6:c.876+247C>T	ENSP00000439156.2:n.876+247C>T
NM_000095.2:c.975+247C>T	NP_000086.2:n.975+247C>T
NM_000095.3:c.975+247C>T MANE Select	NP_000086.2:n.975+247C>T