Canonical Allele Identifier: CA404888367
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2106592
ClinVar RCV Id: RCV003026553
dbSNP Id: rs1601055828
MyVariant Identifiers: chr19:g.18898386T>G (hg19) chr19:g.18787577T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787577T>G , CM000681.2:g.18787577T>G GRCh38
NC_000019.9:g.18898386T>G , CM000681.1:g.18898386T>G GRCh37
NC_000019.8:g.18759386T>G NCBI36
NG_007070.1:g.8729A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1049A>C MANE Select ENSP00000222271.2:p.Asn350Thr
ENST00000222271.6:c.1049A>C ENSP00000222271.2:p.Asn350Thr
ENST00000425807.1:c.890A>C ENSP00000403792.1:p.Asn297Thr
ENST00000542601.6:c.950A>C ENSP00000439156.2:p.Asn317Thr
NM_000095.2:c.1049A>C NP_000086.2:p.Asn350Thr
NM_000095.3:c.1049A>C MANE Select NP_000086.2:p.Asn350Thr
Search 100 bp 5'
Search 100 bp 3'