Canonical Allele Identifier: CA076358

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 283149
• ClinVar RCV Id: RCV000269491 ; RCV002518871 ; RCV002487200 ; RCV003528164
• dbSNP Id: rs772919524
• ExAC: 2:189875015 G / A
• gnomAD v2: 2-189875015-G-A
• gnomAD v3: 2-189010289-G-A
• gnomAD v4: 2-189010289-G-A
• MyVariant Identifiers: chr2:g.189875015G>A (hg19) ; chr2:g.189010289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010289G>A , CM000664.2:g.189010289G>A	GRCh38
NC_000002.11:g.189875015G>A , CM000664.1:g.189875015G>A	GRCh37
NC_000002.10:g.189583260G>A	NCBI36
NG_007404.1:g.40917G>A , LRG_3:g.40917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3836G>A	ENSP00000415346.2:p.Arg1279Gln
ENST00000304636.9:c.3935G>A MANE Select	ENSP00000304408.4:p.Arg1312Gln
ENST00000304636.7:c.3935G>A	ENSP00000304408.3:p.Arg1312Gln
ENST00000317840.9:c.3026G>A	ENSP00000315243.6:p.Arg1009Gln
ENST00000487010.1:n.1032G>A
NM_000090.3:c.3935G>A , LRG_3t1:c.3935G>A	NP_000081.1:p.Arg1312Gln
NM_000090.4:c.3935G>A MANE Select	NP_000081.2:p.Arg1312Gln