Canonical Allele Identifier: CA404885277
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1074710
ClinVar RCV Id: RCV001388115
dbSNP Id: rs1601053997

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786136C>T , CM000681.2:g.18786136C>T GRCh38
NC_000019.9:g.18896946C>T , CM000681.1:g.18896946C>T GRCh37
NC_000019.8:g.18757946C>T NCBI36
NG_007070.1:g.10169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1318G>A MANE Select ENSP00000222271.2:p.Gly440Arg
ENST00000222271.6:c.1318G>A ENSP00000222271.2:p.Gly440Arg
ENST00000425807.1:c.1159G>A ENSP00000403792.1:p.Gly387Arg
ENST00000542601.6:c.1219G>A ENSP00000439156.2:p.Gly407Arg
ENST00000612179.1:n.568G>A
NM_000095.2:c.1318G>A NP_000086.2:p.Gly440Arg
NM_000095.3:c.1318G>A MANE Select NP_000086.2:p.Gly440Arg