Canonical Allele Identifier: CA404885276
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 811306
ClinVar RCV Id: RCV001001082 RCV001869425
dbSNP Id: rs1601053997
gnomAD v4: 19-18786136-C-G
MyVariant Identifiers: chr19:g.18896946C>G (hg19) chr19:g.18786136C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786136C>G , CM000681.2:g.18786136C>G GRCh38
NC_000019.9:g.18896946C>G , CM000681.1:g.18896946C>G GRCh37
NC_000019.8:g.18757946C>G NCBI36
NG_007070.1:g.10169G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1318G>C MANE Select ENSP00000222271.2:p.Gly440Arg
ENST00000222271.6:c.1318G>C ENSP00000222271.2:p.Gly440Arg
ENST00000425807.1:c.1159G>C ENSP00000403792.1:p.Gly387Arg
ENST00000542601.6:c.1219G>C ENSP00000439156.2:p.Gly407Arg
ENST00000612179.1:n.568G>C
NM_000095.2:c.1318G>C NP_000086.2:p.Gly440Arg
NM_000095.3:c.1318G>C MANE Select NP_000086.2:p.Gly440Arg
Search 100 bp 5'
Search 100 bp 3'