Canonical Allele Identifier: CA538441167

Gene: COL3A1

Linked Data

• dbSNP Id: rs1265920017
• gnomAD v2: 2-189856960-T-A
• gnomAD v4: 2-188992234-T-A
• MyVariant Identifiers: chr2:g.189856960T>A (hg19) ; chr2:g.188992234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188992234T>A , CM000664.2:g.188992234T>A	GRCh38
NC_000002.11:g.189856960T>A , CM000664.1:g.189856960T>A	GRCh37
NC_000002.10:g.189565205T>A	NCBI36
NG_007404.1:g.22862T>A , LRG_3:g.22862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.996+6T>A	ENSP00000415346.2:n.996+6T>A
ENST00000304636.9:c.996+6T>A MANE Select	ENSP00000304408.4:n.996+6T>A
ENST00000304636.7:c.996+6T>A	ENSP00000304408.3:n.996+6T>A
ENST00000317840.9:c.996+6T>A	ENSP00000315243.6:n.996+6T>A
ENST00000450867.1:c.94+6T>A
NM_000090.3:c.996+6T>A , LRG_3t1:c.996+6T>A	NP_000081.1:n.996+6T>A
NM_000090.4:c.996+6T>A MANE Select	NP_000081.2:n.996+6T>A