Canonical Allele Identifier: CA404885072
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2761611
ClinVar RCV Id: RCV003567706
MyVariant Identifiers: chr19:g.18896922A>C (hg19) chr19:g.18786112A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786112A>C , CM000681.2:g.18786112A>C GRCh38
NC_000019.9:g.18896922A>C , CM000681.1:g.18896922A>C GRCh37
NC_000019.8:g.18757922A>C NCBI36
NG_007070.1:g.10193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1342T>G MANE Select ENSP00000222271.2:p.Cys448Gly
ENST00000222271.6:c.1342T>G ENSP00000222271.2:p.Cys448Gly
ENST00000425807.1:c.1183T>G ENSP00000403792.1:p.Cys395Gly
ENST00000542601.6:c.1243T>G ENSP00000439156.2:p.Cys415Gly
NM_000095.2:c.1342T>G NP_000086.2:p.Cys448Gly
NM_000095.3:c.1342T>G MANE Select NP_000086.2:p.Cys448Gly
Search 100 bp 5'
Search 100 bp 3'