Canonical Allele Identifier: CA254702
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9188
ClinVar RCV Id: RCV000009766
dbSNP Id: rs137852653

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787644A>G , CM000681.2:g.18787644A>G GRCh38
NC_000019.9:g.18898453A>G , CM000681.1:g.18898453A>G GRCh37
NC_000019.8:g.18759453A>G NCBI36
NG_007070.1:g.8662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.982T>C MANE Select ENSP00000222271.2:p.Cys328Arg
ENST00000222271.6:c.982T>C ENSP00000222271.2:p.Cys328Arg
ENST00000425807.1:c.823T>C ENSP00000403792.1:p.Cys275Arg
ENST00000542601.6:c.883T>C ENSP00000439156.2:p.Cys295Arg
NM_000095.2:c.982T>C NP_000086.2:p.Cys328Arg
NM_000095.3:c.982T>C MANE Select NP_000086.2:p.Cys328Arg