Canonical Allele Identifier: CA9316723
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 722327
ClinVar RCV Id: RCV000895948
dbSNP Id: rs773412062
ExAC: 19:18900056 C / G
gnomAD v2: 19-18900056-C-G
gnomAD v3: 19-18789247-C-G
gnomAD v4: 19-18789247-C-G
COSMIC: COSM4619108
MyVariant Identifiers: chr19:g.18900056C>G (hg19) chr19:g.18789247C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789247C>G , CM000681.2:g.18789247C>G GRCh38
NC_000019.9:g.18900056C>G , CM000681.1:g.18900056C>G GRCh37
NC_000019.8:g.18761056C>G NCBI36
NG_007070.1:g.7059G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.441G>C MANE Select ENSP00000222271.2:p.Pro147=
ENST00000222271.6:c.441G>C ENSP00000222271.2:p.Pro147=
ENST00000425807.1:c.391-355G>C ENSP00000403792.1:n.391-355G>C
ENST00000542601.6:c.342G>C ENSP00000439156.2:p.Pro114=
NM_000095.2:c.441G>C NP_000086.2:p.Pro147=
NM_000095.3:c.441G>C MANE Select NP_000086.2:p.Pro147=
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