Canonical Allele Identifier: CA349845362

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 439514
• ClinVar RCV Id: RCV000507209 ; RCV000702640 ; RCV001170883 ; RCV003322779
• dbSNP Id: rs1461198652
• gnomAD v2: 2-189839228-G-A
• gnomAD v3: 2-188974502-G-A
• gnomAD v4: 2-188974502-G-A
• MyVariant Identifiers: chr2:g.189839228G>A (hg19) ; chr2:g.188974502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188974502G>A , CM000664.2:g.188974502G>A	GRCh38
NC_000002.11:g.189839228G>A , CM000664.1:g.189839228G>A	GRCh37
NC_000002.10:g.189547473G>A	NCBI36
NG_007404.1:g.5130G>A , LRG_3:g.5130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.13G>A	ENSP00000415346.2:p.Val5Met
ENST00000304636.9:c.13G>A MANE Select	ENSP00000304408.4:p.Val5Met
ENST00000304636.7:c.13G>A	ENSP00000304408.3:p.Val5Met
ENST00000317840.9:c.13G>A	ENSP00000315243.6:p.Val5Met
ENST00000470167.1:n.109G>A
NM_000090.3:c.13G>A , LRG_3t1:c.13G>A	NP_000081.1:p.Val5Met
XR_923687.1:n.1795-4023C>T
XR_923688.1:n.1795-4023C>T
XR_923689.1:n.90-4023C>T
XR_923689.3:n.85-4023C>T
NM_000090.4:c.13G>A MANE Select	NP_000081.2:p.Val5Met