Canonical Allele Identifier: CA632375738

Gene: COMP

Linked Data

• dbSNP Id: rs1304717751
• gnomAD v2: 19-18898488-A-G
• gnomAD v3: 19-18787679-A-G
• gnomAD v4: 19-18787679-A-G
• MyVariant Identifiers: chr19:g.18898488A>G (hg19) ; chr19:g.18787679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787679A>G , CM000681.2:g.18787679A>G	GRCh38
NC_000019.9:g.18898488A>G , CM000681.1:g.18898488A>G	GRCh37
NC_000019.8:g.18759488A>G	NCBI36
NG_007070.1:g.8627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-29T>C MANE Select	ENSP00000222271.2:n.976-29T>C
ENST00000222271.6:c.976-29T>C	ENSP00000222271.2:n.976-29T>C
ENST00000425807.1:c.817-29T>C	ENSP00000403792.1:n.817-29T>C
ENST00000542601.6:c.877-29T>C	ENSP00000439156.2:n.877-29T>C
NM_000095.2:c.976-29T>C	NP_000086.2:n.976-29T>C
NM_000095.3:c.976-29T>C MANE Select	NP_000086.2:n.976-29T>C