Canonical Allele Identifier: CA9316438
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs775255655
ExAC: 19:18896939 T / C
gnomAD v2: 19-18896939-T-C
gnomAD v4: 19-18786129-T-C
MyVariant Identifiers: chr19:g.18896939T>C (hg19) chr19:g.18786129T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786129T>C , CM000681.2:g.18786129T>C GRCh38
NC_000019.9:g.18896939T>C , CM000681.1:g.18896939T>C GRCh37
NC_000019.8:g.18757939T>C NCBI36
NG_007070.1:g.10176A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1325A>G MANE Select ENSP00000222271.2:p.Gln442Arg
ENST00000222271.6:c.1325A>G ENSP00000222271.2:p.Gln442Arg
ENST00000425807.1:c.1166A>G ENSP00000403792.1:p.Gln389Arg
ENST00000542601.6:c.1226A>G ENSP00000439156.2:p.Gln409Arg
ENST00000612179.1:n.575A>G
NM_000095.2:c.1325A>G NP_000086.2:p.Gln442Arg
NM_000095.3:c.1325A>G MANE Select NP_000086.2:p.Gln442Arg
Search 100 bp 5'
Search 100 bp 3'