Canonical Allele Identifier: CA404884725
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1679874
ClinVar RCV Id: RCV002227890
dbSNP Id: rs2145900849
MyVariant Identifiers: chr19:g.18896870C>A (hg19) chr19:g.18786060C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786060C>A , CM000681.2:g.18786060C>A GRCh38
NC_000019.9:g.18896870C>A , CM000681.1:g.18896870C>A GRCh37
NC_000019.8:g.18757870C>A NCBI36
NG_007070.1:g.10245G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1394G>T MANE Select ENSP00000222271.2:p.Gly465Val
ENST00000222271.6:c.1394G>T ENSP00000222271.2:p.Gly465Val
ENST00000425807.1:c.1235G>T ENSP00000403792.1:p.Gly412Val
ENST00000542601.6:c.1295G>T ENSP00000439156.2:p.Gly432Val
NM_000095.2:c.1394G>T NP_000086.2:p.Gly465Val
NM_000095.3:c.1394G>T MANE Select NP_000086.2:p.Gly465Val
Search 100 bp 5'
Search 100 bp 3'