Canonical Allele Identifier: CA9316456

Gene: COMP

Linked Data

• dbSNP Id: rs747270281
• ExAC: 19:18897020 C / G
• gnomAD v2: 19-18897020-C-G
• gnomAD v3: 19-18786210-C-G
• gnomAD v4: 19-18786210-C-G
• MyVariant Identifiers: chr19:g.18897020C>G (hg19) ; chr19:g.18786210C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786210C>G , CM000681.2:g.18786210C>G	GRCh38
NC_000019.9:g.18897020C>G , CM000681.1:g.18897020C>G	GRCh37
NC_000019.8:g.18758020C>G	NCBI36
NG_007070.1:g.10095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1307+29G>C MANE Select	ENSP00000222271.2:n.1307+29G>C
ENST00000222271.6:c.1307+29G>C	ENSP00000222271.2:n.1307+29G>C
ENST00000425807.1:c.1148+29G>C	ENSP00000403792.1:n.1148+29G>C
ENST00000542601.6:c.1208+29G>C	ENSP00000439156.2:n.1208+29G>C
ENST00000612179.1:n.557+29G>C
NM_000095.2:c.1307+29G>C	NP_000086.2:n.1307+29G>C
NM_000095.3:c.1307+29G>C MANE Select	NP_000086.2:n.1307+29G>C