Canonical Allele Identifier: CA404896506
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 811379
ClinVar RCV Id: RCV001001200
dbSNP Id: rs1311065591
MyVariant Identifiers: chr19:g.18900060C>T (hg19) chr19:g.18789251C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789251C>T , CM000681.2:g.18789251C>T GRCh38
NC_000019.9:g.18900060C>T , CM000681.1:g.18900060C>T GRCh37
NC_000019.8:g.18761060C>T NCBI36
NG_007070.1:g.7055G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.437G>A MANE Select ENSP00000222271.2:p.Ser146Asn
ENST00000222271.6:c.437G>A ENSP00000222271.2:p.Ser146Asn
ENST00000425807.1:c.391-359G>A ENSP00000403792.1:n.391-359G>A
ENST00000542601.6:c.338G>A ENSP00000439156.2:p.Ser113Asn
NM_000095.2:c.437G>A NP_000086.2:p.Ser146Asn
NM_000095.3:c.437G>A MANE Select NP_000086.2:p.Ser146Asn
Search 100 bp 5'
Search 100 bp 3'