Canonical Allele Identifier: CA632375837
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1470373926
gnomAD v2: 19-18898730-T-C
gnomAD v3: 19-18787921-T-C
gnomAD v4: 19-18787921-T-C
MyVariant Identifiers: chr19:g.18898730T>C (hg19) chr19:g.18787921T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787921T>C , CM000681.2:g.18787921T>C GRCh38
NC_000019.9:g.18898730T>C , CM000681.1:g.18898730T>C GRCh37
NC_000019.8:g.18759730T>C NCBI36
NG_007070.1:g.8385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-271A>G MANE Select ENSP00000222271.2:n.976-271A>G
ENST00000222271.6:c.976-271A>G ENSP00000222271.2:n.976-271A>G
ENST00000425807.1:c.817-271A>G ENSP00000403792.1:n.817-271A>G
ENST00000542601.6:c.877-271A>G ENSP00000439156.2:n.877-271A>G
NM_000095.2:c.976-271A>G NP_000086.2:n.976-271A>G
NM_000095.3:c.976-271A>G MANE Select NP_000086.2:n.976-271A>G
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