Canonical Allele Identifier: CA430309212

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2775098
• ClinVar RCV Id: RCV003528737
• MyVariant Identifiers: chr2:g.189856424A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991698A>G , CM000664.2:g.188991698A>G	GRCh38
NC_000002.11:g.189856424A>G , CM000664.1:g.189856424A>G	GRCh37
NC_000002.10:g.189564669A>G	NCBI36
NG_007404.1:g.22326A>G , LRG_3:g.22326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.927A>G	ENSP00000415346.2:p.Gly309=
ENST00000304636.9:c.927A>G MANE Select	ENSP00000304408.4:p.Gly309=
ENST00000304636.7:c.927A>G	ENSP00000304408.3:p.Gly309=
ENST00000317840.9:c.927A>G	ENSP00000315243.6:p.Gly309=
ENST00000450867.1:c.25A>G
NM_000090.3:c.927A>G , LRG_3t1:c.927A>G	NP_000081.1:p.Gly309=
NM_000090.4:c.927A>G MANE Select	NP_000081.2:p.Gly309=