Canonical Allele Identifier: CA404896643
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 3147937
ClinVar RCV Id: RCV004437770
dbSNP Id: rs763966726
gnomAD v3: 19-18789276-G-A
gnomAD v4: 19-18789276-G-A
MyVariant Identifiers: chr19:g.18900085G>A (hg19) chr19:g.18789276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789276G>A , CM000681.2:g.18789276G>A GRCh38
NC_000019.9:g.18900085G>A , CM000681.1:g.18900085G>A GRCh37
NC_000019.8:g.18761085G>A NCBI36
NG_007070.1:g.7030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.412C>T MANE Select ENSP00000222271.2:p.Pro138Ser
ENST00000222271.6:c.412C>T ENSP00000222271.2:p.Pro138Ser
ENST00000425807.1:c.391-384C>T ENSP00000403792.1:n.391-384C>T
ENST00000542601.6:c.313C>T ENSP00000439156.2:p.Pro105Ser
NM_000095.2:c.412C>T NP_000086.2:p.Pro138Ser
NM_000095.3:c.412C>T MANE Select NP_000086.2:p.Pro138Ser
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