Canonical Allele Identifier: CA430309170

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 459797
• ClinVar RCV Id: RCV000534967 ; RCV001178159
• dbSNP Id: rs138569287
• gnomAD v2: 2-189856233-C-A
• gnomAD v4: 2-188991507-C-A
• COSMIC: COSM402134
• MyVariant Identifiers: chr2:g.189856233C>A (hg19) ; chr2:g.188991507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991507C>A , CM000664.2:g.188991507C>A	GRCh38
NC_000002.11:g.189856233C>A , CM000664.1:g.189856233C>A	GRCh37
NC_000002.10:g.189564478C>A	NCBI36
NG_007404.1:g.22135C>A , LRG_3:g.22135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.873C>A	ENSP00000415346.2:p.Gly291=
ENST00000304636.9:c.873C>A MANE Select	ENSP00000304408.4:p.Gly291=
ENST00000304636.7:c.873C>A	ENSP00000304408.3:p.Gly291=
ENST00000317840.9:c.873C>A	ENSP00000315243.6:p.Gly291=
NM_000090.3:c.873C>A , LRG_3t1:c.873C>A	NP_000081.1:p.Gly291=
NM_000090.4:c.873C>A MANE Select	NP_000081.2:p.Gly291=