Canonical Allele Identifier: CA349851430

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2798833
• ClinVar RCV Id: RCV003634472
• MyVariant Identifiers: chr2:g.189859005G>A (hg19) ; chr2:g.188994279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994279G>A , CM000664.2:g.188994279G>A	GRCh38
NC_000002.11:g.189859005G>A , CM000664.1:g.189859005G>A	GRCh37
NC_000002.10:g.189567250G>A	NCBI36
NG_007404.1:g.24907G>A , LRG_3:g.24907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1141G>A	ENSP00000415346.2:p.Gly381Ser
ENST00000304636.9:c.1240G>A MANE Select	ENSP00000304408.4:p.Gly414Ser
ENST00000304636.7:c.1240G>A	ENSP00000304408.3:p.Gly414Ser
ENST00000317840.9:c.1240G>A	ENSP00000315243.6:p.Gly414Ser
ENST00000450867.1:c.239G>A
NM_000090.3:c.1240G>A , LRG_3t1:c.1240G>A	NP_000081.1:p.Gly414Ser
NM_000090.4:c.1240G>A MANE Select	NP_000081.2:p.Gly414Ser