Canonical Allele Identifier: CA004218

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199707
• ClinVar RCV Id: RCV000226945 ; RCV001704860 ; RCV001183976 ; RCV003330540
• dbSNP Id: rs79632685
• ExAC: 2:189849536 G / A
• gnomAD v2: 2-189849536-G-A
• gnomAD v3: 2-188984810-G-A
• gnomAD v4: 2-188984810-G-A
• MyVariant Identifiers: chr2:g.189849536G>A (hg19) ; chr2:g.188984810G>A (hg38)
• PubMed: PMID:25758994

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188984810G>A , CM000664.2:g.188984810G>A	GRCh38
NC_000002.11:g.189849536G>A , CM000664.1:g.189849536G>A	GRCh37
NC_000002.10:g.189557781G>A	NCBI36
NG_007404.1:g.15438G>A , LRG_3:g.15438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.130G>A	ENSP00000415346.2:p.Val44Ile
ENST00000304636.9:c.130G>A MANE Select	ENSP00000304408.4:p.Val44Ile
ENST00000304636.7:c.130G>A	ENSP00000304408.3:p.Val44Ile
ENST00000317840.9:c.130G>A	ENSP00000315243.6:p.Val44Ile
ENST00000470167.1:n.226G>A
NM_000090.3:c.130G>A , LRG_3t1:c.130G>A	NP_000081.1:p.Val44Ile
NM_000090.4:c.130G>A MANE Select	NP_000081.2:p.Val44Ile