Canonical Allele Identifier: CA14638305
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1286926
ClinVar RCV Id: RCV001708551
dbSNP Id: rs8105006
gnomAD v2: 19-18898675-C-T
gnomAD v3: 19-18787866-C-T
gnomAD v4: 19-18787866-C-T
MyVariant Identifiers: chr19:g.18898675C>T (hg19) chr19:g.18787866C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787866C>T , CM000681.2:g.18787866C>T GRCh38
NC_000019.9:g.18898675C>T , CM000681.1:g.18898675C>T GRCh37
NC_000019.8:g.18759675C>T NCBI36
NG_007070.1:g.8440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-216G>A MANE Select ENSP00000222271.2:n.976-216G>A
ENST00000222271.6:c.976-216G>A ENSP00000222271.2:n.976-216G>A
ENST00000425807.1:c.817-216G>A ENSP00000403792.1:n.817-216G>A
ENST00000542601.6:c.877-216G>A ENSP00000439156.2:n.877-216G>A
NM_000095.2:c.976-216G>A NP_000086.2:n.976-216G>A
NM_000095.3:c.976-216G>A MANE Select NP_000086.2:n.976-216G>A
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