Canonical Allele Identifier: CA9316614
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 328617
ClinVar RCV Id: RCV002521200 RCV000350020 RCV000385885
dbSNP Id: rs776412620
ExAC: 19:18899208 C / T
gnomAD v2: 19-18899208-C-T
gnomAD v3: 19-18788399-C-T
gnomAD v4: 19-18788399-C-T
MyVariant Identifiers: chr19:g.18899208C>T (hg19) chr19:g.18788399C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18788399C>T , CM000681.2:g.18788399C>T GRCh38
NC_000019.9:g.18899208C>T , CM000681.1:g.18899208C>T GRCh37
NC_000019.8:g.18760208C>T NCBI36
NG_007070.1:g.7907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.867+11G>A MANE Select ENSP00000222271.2:n.867+11G>A
ENST00000222271.6:c.867+11G>A ENSP00000222271.2:n.867+11G>A
ENST00000425807.1:c.708+11G>A ENSP00000403792.1:n.708+11G>A
ENST00000542601.6:c.768+11G>A ENSP00000439156.2:n.768+11G>A
NM_000095.2:c.867+11G>A NP_000086.2:n.867+11G>A
NM_000095.3:c.867+11G>A MANE Select NP_000086.2:n.867+11G>A
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