Canonical Allele Identifier: CA430311970

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189004056-T-G
• MyVariant Identifiers: chr2:g.189868782T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004056T>G , CM000664.2:g.189004056T>G	GRCh38
NC_000002.11:g.189868782T>G , CM000664.1:g.189868782T>G	GRCh37
NC_000002.10:g.189577027T>G	NCBI36
NG_007404.1:g.34684T>G , LRG_3:g.34684T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2637T>G	ENSP00000415346.2:p.Gly879=
ENST00000304636.9:c.2736T>G MANE Select	ENSP00000304408.4:p.Gly912=
ENST00000304636.7:c.2736T>G	ENSP00000304408.3:p.Gly912=
ENST00000317840.9:c.2527+1020T>G	ENSP00000315243.6:n.2527+1020T>G
NM_000090.3:c.2736T>G , LRG_3t1:c.2736T>G	NP_000081.1:p.Gly912=
NM_000090.4:c.2736T>G MANE Select	NP_000081.2:p.Gly912=