Canonical Allele Identifier: CA404890317
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 1961350
ClinVar RCV Id: RCV002720649
dbSNP Id: rs2055177176
gnomAD v3: 19-18787634-A-G
gnomAD v4: 19-18787634-A-G
MyVariant Identifiers: chr19:g.18898443A>G (hg19) chr19:g.18787634A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787634A>G , CM000681.2:g.18787634A>G GRCh38
NC_000019.9:g.18898443A>G , CM000681.1:g.18898443A>G GRCh37
NC_000019.8:g.18759443A>G NCBI36
NG_007070.1:g.8672T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.992T>C MANE Select ENSP00000222271.2:p.Val331Ala
ENST00000222271.6:c.992T>C ENSP00000222271.2:p.Val331Ala
ENST00000425807.1:c.833T>C ENSP00000403792.1:p.Val278Ala
ENST00000542601.6:c.893T>C ENSP00000439156.2:p.Val298Ala
NM_000095.2:c.992T>C NP_000086.2:p.Val331Ala
NM_000095.3:c.992T>C MANE Select NP_000086.2:p.Val331Ala
Search 100 bp 5'
Search 100 bp 3'