Canonical Allele Identifier: CA254703
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9195
ClinVar RCV Id: RCV000009773
dbSNP Id: rs137852656

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787584A>G , CM000681.2:g.18787584A>G GRCh38
NC_000019.9:g.18898393A>G , CM000681.1:g.18898393A>G GRCh37
NC_000019.8:g.18759393A>G NCBI36
NG_007070.1:g.8722T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1042T>C MANE Select ENSP00000222271.2:p.Cys348Arg
ENST00000222271.6:c.1042T>C ENSP00000222271.2:p.Cys348Arg
ENST00000425807.1:c.883T>C ENSP00000403792.1:p.Cys295Arg
ENST00000542601.6:c.943T>C ENSP00000439156.2:p.Cys315Arg
NM_000095.2:c.1042T>C NP_000086.2:p.Cys348Arg
NM_000095.3:c.1042T>C MANE Select NP_000086.2:p.Cys348Arg