Canonical Allele Identifier: CA404884282
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 992397
ClinVar RCV Id: RCV001280839
dbSNP Id: rs2055164177
MyVariant Identifiers: chr19:g.18896810C>T (hg19) chr19:g.18786000C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786000C>T , CM000681.2:g.18786000C>T GRCh38
NC_000019.9:g.18896810C>T , CM000681.1:g.18896810C>T GRCh37
NC_000019.8:g.18757810C>T NCBI36
NG_007070.1:g.10305G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1454G>A MANE Select ENSP00000222271.2:p.Arg485His
ENST00000222271.6:c.1454G>A ENSP00000222271.2:p.Arg485His
ENST00000425807.1:c.1295G>A ENSP00000403792.1:p.Arg432His
ENST00000542601.6:c.1355G>A ENSP00000439156.2:p.Arg452His
NM_000095.2:c.1454G>A NP_000086.2:p.Arg485His
NM_000095.3:c.1454G>A MANE Select NP_000086.2:p.Arg485His
Search 100 bp 5'
Search 100 bp 3'