Canonical Allele Identifier: CA349846646

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1732736
• ClinVar RCV Id: RCV002454948
• MyVariant Identifiers: chr2:g.189873689C>G (hg19) ; chr2:g.189008963C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008963C>G , CM000664.2:g.189008963C>G	GRCh38
NC_000002.11:g.189873689C>G , CM000664.1:g.189873689C>G	GRCh37
NC_000002.10:g.189581934C>G	NCBI36
NG_007404.1:g.39591C>G , LRG_3:g.39591C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3466C>G	ENSP00000415346.2:p.Pro1156Ala
ENST00000304636.9:c.3565C>G MANE Select	ENSP00000304408.4:p.Pro1189Ala
ENST00000304636.7:c.3565C>G	ENSP00000304408.3:p.Pro1189Ala
ENST00000317840.9:c.2656C>G	ENSP00000315243.6:p.Pro886Ala
ENST00000487010.1:n.662C>G
NM_000090.3:c.3565C>G , LRG_3t1:c.3565C>G	NP_000081.1:p.Pro1189Ala
NM_000090.4:c.3565C>G MANE Select	NP_000081.2:p.Pro1189Ala