Canonical Allele Identifier: CA404884162
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1224328
ClinVar RCV Id: RCV001596866
dbSNP Id: rs1252223404
gnomAD v4: 19-18785979-T-G
MyVariant Identifiers: chr19:g.18896789T>G (hg19) chr19:g.18785979T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785979T>G , CM000681.2:g.18785979T>G GRCh38
NC_000019.9:g.18896789T>G , CM000681.1:g.18896789T>G GRCh37
NC_000019.8:g.18757789T>G NCBI36
NG_007070.1:g.10326A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1475A>C MANE Select ENSP00000222271.2:p.Gln492Pro
ENST00000222271.6:c.1475A>C ENSP00000222271.2:p.Gln492Pro
ENST00000425807.1:c.1316A>C ENSP00000403792.1:p.Gln439Pro
ENST00000542601.6:c.1376A>C ENSP00000439156.2:p.Gln459Pro
NM_000095.2:c.1475A>C NP_000086.2:p.Gln492Pro
NM_000095.3:c.1475A>C MANE Select NP_000086.2:p.Gln492Pro
Search 100 bp 5'
Search 100 bp 3'