Canonical Allele Identifier: CA9316729

Gene: COMP

Linked Data

• ClinVar Variation Id: 328623
• ClinVar RCV Id: RCV000275499 ; RCV000330560 ; RCV001435909 ; RCV002278507
• dbSNP Id: rs757094319
• ExAC: 19:18900087 A / G
• gnomAD v2: 19-18900087-A-G
• gnomAD v3: 19-18789278-A-G
• gnomAD v4: 19-18789278-A-G
• MyVariant Identifiers: chr19:g.18900087A>G (hg19) ; chr19:g.18789278A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789278A>G , CM000681.2:g.18789278A>G	GRCh38
NC_000019.9:g.18900087A>G , CM000681.1:g.18900087A>G	GRCh37
NC_000019.8:g.18761087A>G	NCBI36
NG_007070.1:g.7028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.410T>C MANE Select	ENSP00000222271.2:p.Phe137Ser
ENST00000222271.6:c.410T>C	ENSP00000222271.2:p.Phe137Ser
ENST00000425807.1:c.391-386T>C	ENSP00000403792.1:n.391-386T>C
ENST00000542601.6:c.311T>C	ENSP00000439156.2:p.Phe104Ser
NM_000095.2:c.410T>C	NP_000086.2:p.Phe137Ser
NM_000095.3:c.410T>C MANE Select	NP_000086.2:p.Phe137Ser