Canonical Allele Identifier: CA404877702
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2772129
ClinVar RCV Id: RCV003574592
MyVariant Identifiers: chr19:g.18895706C>G (hg19) chr19:g.18784896C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784896C>G , CM000681.2:g.18784896C>G GRCh38
NC_000019.9:g.18895706C>G , CM000681.1:g.18895706C>G GRCh37
NC_000019.8:g.18756706C>G NCBI36
NG_007070.1:g.11409G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1914G>C MANE Select ENSP00000222271.2:p.Lys638Asn
ENST00000222271.6:c.1914G>C ENSP00000222271.2:p.Lys638Asn
ENST00000425807.1:c.1755G>C ENSP00000403792.1:p.Lys585Asn
ENST00000542601.6:c.1815G>C ENSP00000439156.2:p.Lys605Asn
NM_000095.2:c.1914G>C NP_000086.2:p.Lys638Asn
NM_000095.3:c.1914G>C MANE Select NP_000086.2:p.Lys638Asn
Search 100 bp 5'
Search 100 bp 3'