Canonical Allele Identifier: CA004724

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199725
• ClinVar RCV Id: RCV000181089 ; RCV001804910 ; RCV002492797
• dbSNP Id: rs794728048
• gnomAD v2: 2-189862477-C-G
• gnomAD v3: 2-188997751-C-G
• gnomAD v4: 2-188997751-C-G
• MyVariant Identifiers: chr2:g.189862477C>G (hg19) ; chr2:g.188997751C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997751C>G , CM000664.2:g.188997751C>G	GRCh38
NC_000002.11:g.189862477C>G , CM000664.1:g.189862477C>G	GRCh37
NC_000002.10:g.189570722C>G	NCBI36
NG_007404.1:g.28379C>G , LRG_3:g.28379C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1822C>G	ENSP00000415346.2:p.Gln608Glu
ENST00000304636.9:c.1921C>G MANE Select	ENSP00000304408.4:p.Gln641Glu
ENST00000304636.7:c.1921C>G	ENSP00000304408.3:p.Gln641Glu
ENST00000317840.9:c.1921C>G	ENSP00000315243.6:p.Gln641Glu
NM_000090.3:c.1921C>G , LRG_3t1:c.1921C>G	NP_000081.1:p.Gln641Glu
NM_000090.4:c.1921C>G MANE Select	NP_000081.2:p.Gln641Glu