Canonical Allele Identifier: CA279199

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 208865
• ClinVar RCV Id: RCV000201324 ; RCV000462828 ; RCV002500584
• dbSNP Id: rs863223362
• gnomAD v2: 2-189864098-G-A
• gnomAD v3: 2-188999372-G-A
• gnomAD v4: 2-188999372-G-A
• COSMIC: COSM3575390 ; COSM3575391
• MyVariant Identifiers: chr2:g.189864098G>A (hg19) ; chr2:g.188999372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999372G>A , CM000664.2:g.188999372G>A	GRCh38
NC_000002.11:g.189864098G>A , CM000664.1:g.189864098G>A	GRCh37
NC_000002.10:g.189572343G>A	NCBI36
NG_007404.1:g.30000G>A , LRG_3:g.30000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2011G>A	ENSP00000415346.2:p.Glu671Lys
ENST00000304636.9:c.2110G>A MANE Select	ENSP00000304408.4:p.Glu704Lys
ENST00000304636.7:c.2110G>A	ENSP00000304408.3:p.Glu704Lys
ENST00000317840.9:c.2110G>A	ENSP00000315243.6:p.Glu704Lys
NM_000090.3:c.2110G>A , LRG_3t1:c.2110G>A	NP_000081.1:p.Glu704Lys
NM_000090.4:c.2110G>A MANE Select	NP_000081.2:p.Glu704Lys