Canonical Allele Identifier: CA306251787
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1948516
ClinVar RCV Id: RCV002667794
dbSNP Id: rs975316335
gnomAD v2: 19-18893851-G-A
gnomAD v3: 19-18783041-G-A
gnomAD v4: 19-18783041-G-A
MyVariant Identifiers: chr19:g.18893851G>A (hg19) chr19:g.18783041G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783041G>A , CM000681.2:g.18783041G>A GRCh38
NC_000019.9:g.18893851G>A , CM000681.1:g.18893851G>A GRCh37
NC_000019.8:g.18754851G>A NCBI36
NG_007070.1:g.13264C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2227+13C>T MANE Select ENSP00000222271.2:n.2227+13C>T
ENST00000222271.6:c.2227+13C>T ENSP00000222271.2:n.2227+13C>T
ENST00000425807.1:c.2068+13C>T ENSP00000403792.1:n.2068+13C>T
ENST00000542601.6:c.2128+13C>T ENSP00000439156.2:n.2128+13C>T
NM_000095.2:c.2227+13C>T NP_000086.2:n.2227+13C>T
NM_000095.3:c.2227+13C>T MANE Select NP_000086.2:n.2227+13C>T
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