Canonical Allele Identifier: CA9316733
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1895795
ClinVar RCV Id: RCV002569560
dbSNP Id: rs779567566
ExAC: 19:18900120 G / T
gnomAD v2: 19-18900120-G-T
gnomAD v4: 19-18789311-G-T
MyVariant Identifiers: chr19:g.18900120G>T (hg19) chr19:g.18789311G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789311G>T , CM000681.2:g.18789311G>T GRCh38
NC_000019.9:g.18900120G>T , CM000681.1:g.18900120G>T GRCh37
NC_000019.8:g.18761120G>T NCBI36
NG_007070.1:g.6995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.391-14C>A MANE Select ENSP00000222271.2:n.391-14C>A
ENST00000222271.6:c.391-14C>A ENSP00000222271.2:n.391-14C>A
ENST00000425807.1:c.391-419C>A ENSP00000403792.1:n.391-419C>A
ENST00000542601.6:c.292-14C>A ENSP00000439156.2:n.292-14C>A
NM_000095.2:c.391-14C>A NP_000086.2:n.391-14C>A
NM_000095.3:c.391-14C>A MANE Select NP_000086.2:n.391-14C>A
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