Canonical Allele Identifier: CA9316730
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 745257
ClinVar RCV Id: RCV000921770
dbSNP Id: rs767476445
ExAC: 19:18900098 G / T
gnomAD v2: 19-18900098-G-T
gnomAD v3: 19-18789289-G-T
gnomAD v4: 19-18789289-G-T
MyVariant Identifiers: chr19:g.18900098G>T (hg19) chr19:g.18789289G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789289G>T , CM000681.2:g.18789289G>T GRCh38
NC_000019.9:g.18900098G>T , CM000681.1:g.18900098G>T GRCh37
NC_000019.8:g.18761098G>T NCBI36
NG_007070.1:g.7017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.399C>A MANE Select ENSP00000222271.2:p.Ala133=
ENST00000222271.6:c.399C>A ENSP00000222271.2:p.Ala133=
ENST00000425807.1:c.391-397C>A ENSP00000403792.1:n.391-397C>A
ENST00000542601.6:c.300C>A ENSP00000439156.2:p.Ala100=
NM_000095.2:c.399C>A NP_000086.2:p.Ala133=
NM_000095.3:c.399C>A MANE Select NP_000086.2:p.Ala133=
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Search 100 bp 3'