Canonical Allele Identifier: CA762208865

Gene: COL3A1

Linked Data

• dbSNP Id: rs1172238096
• gnomAD v4: 2-189008425-A-G
• MyVariant Identifiers: chr2:g.189873151A>G (hg19) ; chr2:g.189008425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008425A>G , CM000664.2:g.189008425A>G	GRCh38
NC_000002.11:g.189873151A>G , CM000664.1:g.189873151A>G	GRCh37
NC_000002.10:g.189581396A>G	NCBI36
NG_007404.1:g.39053A>G , LRG_3:g.39053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+283A>G	ENSP00000415346.2:n.3426+283A>G
ENST00000304636.9:c.3525+283A>G MANE Select	ENSP00000304408.4:n.3525+283A>G
ENST00000304636.7:c.3525+283A>G	ENSP00000304408.3:n.3525+283A>G
ENST00000317840.9:c.2616+283A>G	ENSP00000315243.6:n.2616+283A>G
ENST00000487010.1:n.124A>G
NM_000090.3:c.3525+283A>G , LRG_3t1:c.3525+283A>G	NP_000081.1:n.3525+283A>G
NM_000090.4:c.3525+283A>G MANE Select	NP_000081.2:n.3525+283A>G