Canonical Allele Identifier: CA404896615
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789270C>T , CM000681.2:g.18789270C>T GRCh38
NC_000019.9:g.18900079C>T , CM000681.1:g.18900079C>T GRCh37
NC_000019.8:g.18761079C>T NCBI36
NG_007070.1:g.7036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.418G>A MANE Select ENSP00000222271.2:p.Val140Ile
ENST00000222271.6:c.418G>A ENSP00000222271.2:p.Val140Ile
ENST00000425807.1:c.391-378G>A ENSP00000403792.1:n.391-378G>A
ENST00000542601.6:c.319G>A ENSP00000439156.2:p.Val107Ile
NM_000095.2:c.418G>A NP_000086.2:p.Val140Ile
NM_000095.3:c.418G>A MANE Select NP_000086.2:p.Val140Ile