Canonical Allele Identifier: CA2662286353

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2908967
• ClinVar RCV Id: RCV003634167
• gnomAD v4: 2-188988139-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988140dup , CM000664.2:g.188988140dup	GRCh38
NC_000002.11:g.189852866dup , CM000664.1:g.189852866dup	GRCh37
NC_000002.10:g.189561111dup	NCBI36
NG_007404.1:g.18768dup , LRG_3:g.18768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.582+6dup	ENSP00000415346.2:n.582+6dup
ENST00000304636.9:c.582+6dup MANE Select	ENSP00000304408.4:n.582+6dup
ENST00000304636.7:c.582+6dup	ENSP00000304408.3:n.582+6dup
ENST00000317840.9:c.582+6dup	ENSP00000315243.6:n.582+6dup
NM_000090.3:c.582+6dup , LRG_3t1:c.582+6dup	NP_000081.1:n.582+6dup
NM_000090.4:c.582+6dup MANE Select	NP_000081.2:n.582+6dup