Canonical Allele Identifier: CA9316790
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 255122
ClinVar RCV Id: RCV000251511 RCV000283361 RCV000395471
dbSNP Id: rs150008764
ExAC: 19:18900937 G / A
gnomAD v2: 19-18900937-G-A
gnomAD v3: 19-18790128-G-A
gnomAD v4: 19-18790128-G-A
MyVariant Identifiers: chr19:g.18900937G>A (hg19) chr19:g.18790128G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18790128G>A , CM000681.2:g.18790128G>A GRCh38
NC_000019.9:g.18900937G>A , CM000681.1:g.18900937G>A GRCh37
NC_000019.8:g.18761937G>A NCBI36
NG_007070.1:g.6178C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.218-14C>T MANE Select ENSP00000222271.2:n.218-14C>T
ENST00000222271.6:c.218-14C>T ENSP00000222271.2:n.218-14C>T
ENST00000425807.1:c.218-14C>T ENSP00000403792.1:n.218-14C>T
ENST00000542601.6:c.119-14C>T ENSP00000439156.2:n.119-14C>T
NM_000095.2:c.218-14C>T NP_000086.2:n.218-14C>T
NM_000095.3:c.218-14C>T MANE Select NP_000086.2:n.218-14C>T
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Search 100 bp 3'