Canonical Allele Identifier: CA074475

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 519599
• ClinVar RCV Id: RCV000690897 ; RCV001788301 ; RCV001179324 ; RCV002483727
• dbSNP Id: rs140257722
• ExAC: 2:189860493 G / A
• gnomAD v2: 2-189860493-G-A
• gnomAD v3: 2-188995767-G-A
• gnomAD v4: 2-188995767-G-A
• MyVariant Identifiers: chr2:g.189860493G>A (hg19) ; chr2:g.188995767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188995767G>A , CM000664.2:g.188995767G>A	GRCh38
NC_000002.11:g.189860493G>A , CM000664.1:g.189860493G>A	GRCh37
NC_000002.10:g.189568738G>A	NCBI36
NG_007404.1:g.26395G>A , LRG_3:g.26395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1486G>A	ENSP00000415346.2:p.Val496Ile
ENST00000304636.9:c.1585G>A MANE Select	ENSP00000304408.4:p.Val529Ile
ENST00000304636.7:c.1585G>A	ENSP00000304408.3:p.Val529Ile
ENST00000317840.9:c.1585G>A	ENSP00000315243.6:p.Val529Ile
NM_000090.3:c.1585G>A , LRG_3t1:c.1585G>A	NP_000081.1:p.Val529Ile
NM_000090.4:c.1585G>A MANE Select	NP_000081.2:p.Val529Ile