Canonical Allele Identifier: CA62561442

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 459786
• ClinVar RCV Id: RCV000540500 ; RCV001178162 ; RCV001506646
• dbSNP Id: rs1045040851
• gnomAD v3: 2-189007589-A-G
• gnomAD v4: 2-189007589-A-G
• MyVariant Identifiers: chr2:g.189872315A>G (hg19) ; chr2:g.189007589A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007589A>G , CM000664.2:g.189007589A>G	GRCh38
NC_000002.11:g.189872315A>G , CM000664.1:g.189872315A>G	GRCh37
NC_000002.10:g.189580560A>G	NCBI36
NG_007404.1:g.38217A>G , LRG_3:g.38217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3246A>G	ENSP00000415346.2:p.Pro1082=
ENST00000304636.9:c.3345A>G MANE Select	ENSP00000304408.4:p.Pro1115=
ENST00000304636.7:c.3345A>G	ENSP00000304408.3:p.Pro1115=
ENST00000317840.9:c.2528-465A>G	ENSP00000315243.6:n.2528-465A>G
NM_000090.3:c.3345A>G , LRG_3t1:c.3345A>G	NP_000081.1:p.Pro1115=
NM_000090.4:c.3345A>G MANE Select	NP_000081.2:p.Pro1115=