Canonical Allele Identifier: CA9316436
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1497620
ClinVar RCV Id: RCV001996175 RCV002276979 RCV002642039
dbSNP Id: rs747106682
ExAC: 19:18896933 G / C
gnomAD v2: 19-18896933-G-C
gnomAD v3: 19-18786123-G-C
gnomAD v4: 19-18786123-G-C
MyVariant Identifiers: chr19:g.18896933G>C (hg19) chr19:g.18786123G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786123G>C , CM000681.2:g.18786123G>C GRCh38
NC_000019.9:g.18896933G>C , CM000681.1:g.18896933G>C GRCh37
NC_000019.8:g.18757933G>C NCBI36
NG_007070.1:g.10182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1331C>G MANE Select ENSP00000222271.2:p.Ser444Cys
ENST00000222271.6:c.1331C>G ENSP00000222271.2:p.Ser444Cys
ENST00000425807.1:c.1172C>G ENSP00000403792.1:p.Ser391Cys
ENST00000542601.6:c.1232C>G ENSP00000439156.2:p.Ser411Cys
ENST00000612179.1:n.581C>G
NM_000095.2:c.1331C>G NP_000086.2:p.Ser444Cys
NM_000095.3:c.1331C>G MANE Select NP_000086.2:p.Ser444Cys
Search 100 bp 5'
Search 100 bp 3'