Canonical Allele Identifier: CA9316595

Gene: COMP

Linked Data

• ClinVar Variation Id: 328616
• ClinVar RCV Id: RCV000296158 ; RCV000371849 ; RCV000912964
• dbSNP Id: rs529806631
• ExAC: 19:18899132 G / A
• gnomAD v2: 19-18899132-G-A
• gnomAD v3: 19-18788323-G-A
• gnomAD v4: 19-18788323-G-A
• MyVariant Identifiers: chr19:g.18899132G>A (hg19) ; chr19:g.18788323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18788323G>A , CM000681.2:g.18788323G>A	GRCh38
NC_000019.9:g.18899132G>A , CM000681.1:g.18899132G>A	GRCh37
NC_000019.8:g.18760132G>A	NCBI36
NG_007070.1:g.7983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.868-4C>T MANE Select	ENSP00000222271.2:n.868-4C>T
ENST00000222271.6:c.868-4C>T	ENSP00000222271.2:n.868-4C>T
ENST00000425807.1:c.709-4C>T	ENSP00000403792.1:n.709-4C>T
ENST00000542601.6:c.769-4C>T	ENSP00000439156.2:n.769-4C>T
NM_000095.2:c.868-4C>T	NP_000086.2:n.868-4C>T
NM_000095.3:c.868-4C>T MANE Select	NP_000086.2:n.868-4C>T