Canonical Allele Identifier: CA349842625

Gene: COL3A1

Linked Data

• COSMIC: COSM3407408 ; COSM3407409
• MyVariant Identifiers: chr2:g.189867049C>G (hg19) ; chr2:g.189002323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002323C>G , CM000664.2:g.189002323C>G	GRCh38
NC_000002.11:g.189867049C>G , CM000664.1:g.189867049C>G	GRCh37
NC_000002.10:g.189575294C>G	NCBI36
NG_007404.1:g.32951C>G , LRG_3:g.32951C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2318C>G	ENSP00000415346.2:p.Pro773Arg
ENST00000304636.9:c.2417C>G MANE Select	ENSP00000304408.4:p.Pro806Arg
ENST00000304636.7:c.2417C>G	ENSP00000304408.3:p.Pro806Arg
ENST00000317840.9:c.2417C>G	ENSP00000315243.6:p.Pro806Arg
NM_000090.3:c.2417C>G , LRG_3t1:c.2417C>G	NP_000081.1:p.Pro806Arg
NM_000090.4:c.2417C>G MANE Select	NP_000081.2:p.Pro806Arg