Canonical Allele Identifier: CA430442219

Gene: COL3A1

Linked Data

• dbSNP Id: rs1324672067
• gnomAD v4: 2-189010683-C-G
• MyVariant Identifiers: chr2:g.189875409C>G (hg19) ; chr2:g.189010683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010683C>G , CM000664.2:g.189010683C>G	GRCh38
NC_000002.11:g.189875409C>G , CM000664.1:g.189875409C>G	GRCh37
NC_000002.10:g.189583654C>G	NCBI36
NG_007404.1:g.41311C>G , LRG_3:g.41311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3948C>G	ENSP00000415346.2:p.Val1316=
ENST00000304636.9:c.4047C>G MANE Select	ENSP00000304408.4:p.Val1349=
ENST00000304636.7:c.4047C>G	ENSP00000304408.3:p.Val1349=
ENST00000317840.9:c.3138C>G	ENSP00000315243.6:p.Val1046=
ENST00000487010.1:n.1426C>G
NM_000090.3:c.4047C>G , LRG_3t1:c.4047C>G	NP_000081.1:p.Val1349=
NM_000090.4:c.4047C>G MANE Select	NP_000081.2:p.Val1349=