Canonical Allele Identifier: CA404896672
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1444151131
gnomAD v2: 19-18900088-A-C
gnomAD v4: 19-18789279-A-C
MyVariant Identifiers: chr19:g.18900088A>C (hg19) chr19:g.18789279A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789279A>C , CM000681.2:g.18789279A>C GRCh38
NC_000019.9:g.18900088A>C , CM000681.1:g.18900088A>C GRCh37
NC_000019.8:g.18761088A>C NCBI36
NG_007070.1:g.7027T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.409T>G MANE Select ENSP00000222271.2:p.Phe137Val
ENST00000222271.6:c.409T>G ENSP00000222271.2:p.Phe137Val
ENST00000425807.1:c.391-387T>G ENSP00000403792.1:n.391-387T>G
ENST00000542601.6:c.310T>G ENSP00000439156.2:p.Phe104Val
NM_000095.2:c.409T>G NP_000086.2:p.Phe137Val
NM_000095.3:c.409T>G MANE Select NP_000086.2:p.Phe137Val
Search 100 bp 5'
Search 100 bp 3'