Canonical Allele Identifier: CA9316435
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 3147931
ClinVar RCV Id: RCV004437764
dbSNP Id: rs777939991
ExAC: 19:18896930 C / G
gnomAD v2: 19-18896930-C-G
gnomAD v3: 19-18786120-C-G
gnomAD v4: 19-18786120-C-G
MyVariant Identifiers: chr19:g.18896930C>G (hg19) chr19:g.18786120C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786120C>G , CM000681.2:g.18786120C>G GRCh38
NC_000019.9:g.18896930C>G , CM000681.1:g.18896930C>G GRCh37
NC_000019.8:g.18757930C>G NCBI36
NG_007070.1:g.10185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1334G>C MANE Select ENSP00000222271.2:p.Arg445Pro
ENST00000222271.6:c.1334G>C ENSP00000222271.2:p.Arg445Pro
ENST00000425807.1:c.1175G>C ENSP00000403792.1:p.Arg392Pro
ENST00000542601.6:c.1235G>C ENSP00000439156.2:p.Arg412Pro
ENST00000612179.1:n.584G>C
NM_000095.2:c.1334G>C NP_000086.2:p.Arg445Pro
NM_000095.3:c.1334G>C MANE Select NP_000086.2:p.Arg445Pro
Search 100 bp 5'
Search 100 bp 3'