Canonical Allele Identifier: CA404885090
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786113G>C , CM000681.2:g.18786113G>C GRCh38
NC_000019.9:g.18896923G>C , CM000681.1:g.18896923G>C GRCh37
NC_000019.8:g.18757923G>C NCBI36
NG_007070.1:g.10192C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1341C>G MANE Select ENSP00000222271.2:p.Asn447Lys
ENST00000222271.6:c.1341C>G ENSP00000222271.2:p.Asn447Lys
ENST00000425807.1:c.1182C>G ENSP00000403792.1:p.Asn394Lys
ENST00000542601.6:c.1242C>G ENSP00000439156.2:p.Asn414Lys
NM_000095.2:c.1341C>G NP_000086.2:p.Asn447Lys
NM_000095.3:c.1341C>G MANE Select NP_000086.2:p.Asn447Lys