Canonical Allele Identifier: CA9316446

Gene: COMP

Linked Data

• dbSNP Id: rs749899512
• ExAC: 19:18896971 T / C
• gnomAD v2: 19-18896971-T-C
• gnomAD v3: 19-18786161-T-C
• gnomAD v4: 19-18786161-T-C
• MyVariant Identifiers: chr19:g.18896971T>C (hg19) ; chr19:g.18786161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786161T>C , CM000681.2:g.18786161T>C	GRCh38
NC_000019.9:g.18896971T>C , CM000681.1:g.18896971T>C	GRCh37
NC_000019.8:g.18757971T>C	NCBI36
NG_007070.1:g.10144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1308-15A>G MANE Select	ENSP00000222271.2:n.1308-15A>G
ENST00000222271.6:c.1308-15A>G	ENSP00000222271.2:n.1308-15A>G
ENST00000425807.1:c.1149-15A>G	ENSP00000403792.1:n.1149-15A>G
ENST00000542601.6:c.1209-15A>G	ENSP00000439156.2:n.1209-15A>G
ENST00000612179.1:n.558-15A>G
NM_000095.2:c.1308-15A>G	NP_000086.2:n.1308-15A>G
NM_000095.3:c.1308-15A>G MANE Select	NP_000086.2:n.1308-15A>G