Canonical Allele Identifier: CA306253821
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs764707813
gnomAD v2: 19-18895953-C-T
gnomAD v4: 19-18785143-C-T
MyVariant Identifiers: chr19:g.18895953C>T (hg19) chr19:g.18785143C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785143C>T , CM000681.2:g.18785143C>T GRCh38
NC_000019.9:g.18895953C>T , CM000681.1:g.18895953C>T GRCh37
NC_000019.8:g.18756953C>T NCBI36
NG_007070.1:g.11162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1718-51G>A MANE Select ENSP00000222271.2:n.1718-51G>A
ENST00000222271.6:c.1718-51G>A ENSP00000222271.2:n.1718-51G>A
ENST00000425807.1:c.1559-51G>A ENSP00000403792.1:n.1559-51G>A
ENST00000542601.6:c.1619-51G>A ENSP00000439156.2:n.1619-51G>A
NM_000095.2:c.1718-51G>A NP_000086.2:n.1718-51G>A
NM_000095.3:c.1718-51G>A MANE Select NP_000086.2:n.1718-51G>A
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