Canonical Allele Identifier: CA004914

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 35964
• ClinVar RCV Id: RCV000029620 ; RCV000181054 ; RCV000205824 ; RCV000769570 ; RCV001311567 ; RCV002496448 ; RCV002276583
• dbSNP Id: rs41263773
• ExAC: 2:189864023 G / A
• gnomAD v2: 2-189864023-G-A
• gnomAD v3: 2-188999297-G-A
• gnomAD v4: 2-188999297-G-A
• MyVariant Identifiers: chr2:g.189864023G>A (hg19) ; chr2:g.188999297G>A (hg38)
• PubMed: PMID:18272325

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999297G>A , CM000664.2:g.188999297G>A	GRCh38
NC_000002.11:g.189864023G>A , CM000664.1:g.189864023G>A	GRCh37
NC_000002.10:g.189572268G>A	NCBI36
NG_007404.1:g.29925G>A , LRG_3:g.29925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1936G>A	ENSP00000415346.2:p.Ala646Thr
ENST00000304636.9:c.2035G>A MANE Select	ENSP00000304408.4:p.Ala679Thr
ENST00000304636.7:c.2035G>A	ENSP00000304408.3:p.Ala679Thr
ENST00000317840.9:c.2035G>A	ENSP00000315243.6:p.Ala679Thr
NM_000090.3:c.2035G>A , LRG_3t1:c.2035G>A	NP_000081.1:p.Ala679Thr
NM_000090.4:c.2035G>A MANE Select	NP_000081.2:p.Ala679Thr