Canonical Allele Identifier: CA349850947

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993415-G-A
• MyVariant Identifiers: chr2:g.189858141G>A (hg19) ; chr2:g.188993415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993415G>A , CM000664.2:g.188993415G>A	GRCh38
NC_000002.11:g.189858141G>A , CM000664.1:g.189858141G>A	GRCh37
NC_000002.10:g.189566386G>A	NCBI36
NG_007404.1:g.24043G>A , LRG_3:g.24043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+475G>A	ENSP00000415346.2:n.1050+475G>A
ENST00000304636.9:c.1105G>A MANE Select	ENSP00000304408.4:p.Gly369Arg
ENST00000304636.7:c.1105G>A	ENSP00000304408.3:p.Gly369Arg
ENST00000317840.9:c.1105G>A	ENSP00000315243.6:p.Gly369Arg
ENST00000450867.1:c.148+475G>A
NM_000090.3:c.1105G>A , LRG_3t1:c.1105G>A	NP_000081.1:p.Gly369Arg
NM_000090.4:c.1105G>A MANE Select	NP_000081.2:p.Gly369Arg