Canonical Allele Identifier: CA62556489

Gene: COL3A1

Linked Data

• dbSNP Id: rs570979629
• gnomAD v3: 2-189003142-T-G
• gnomAD v4: 2-189003142-T-G
• MyVariant Identifiers: chr2:g.189867868T>G (hg19) ; chr2:g.189003142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003142T>G , CM000664.2:g.189003142T>G	GRCh38
NC_000002.11:g.189867868T>G , CM000664.1:g.189867868T>G	GRCh37
NC_000002.10:g.189576113T>G	NCBI36
NG_007404.1:g.33770T>G , LRG_3:g.33770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+80T>G	ENSP00000415346.2:n.2454+80T>G
ENST00000304636.9:c.2553+80T>G MANE Select	ENSP00000304408.4:n.2553+80T>G
ENST00000304636.7:c.2553+80T>G	ENSP00000304408.3:n.2553+80T>G
ENST00000317840.9:c.2527+106T>G	ENSP00000315243.6:n.2527+106T>G
NM_000090.3:c.2553+80T>G , LRG_3t1:c.2553+80T>G	NP_000081.1:n.2553+80T>G
NM_000090.4:c.2553+80T>G MANE Select	NP_000081.2:n.2553+80T>G