Canonical Allele Identifier: CA076651

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 263818
• ClinVar RCV Id: RCV000249838 ; RCV000868023 ; RCV001189402
• dbSNP Id: rs374476865
• ExAC: 2:189851845 G / A
• gnomAD v2: 2-189851845-G-A
• gnomAD v3: 2-188987119-G-A
• gnomAD v4: 2-188987119-G-A
• MyVariant Identifiers: chr2:g.189851845G>A (hg19) ; chr2:g.188987119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188987119G>A , CM000664.2:g.188987119G>A	GRCh38
NC_000002.11:g.189851845G>A , CM000664.1:g.189851845G>A	GRCh37
NC_000002.10:g.189560090G>A	NCBI36
NG_007404.1:g.17747G>A , LRG_3:g.17747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.508G>A	ENSP00000415346.2:p.Ala170Thr
ENST00000304636.9:c.508G>A MANE Select	ENSP00000304408.4:p.Ala170Thr
ENST00000304636.7:c.508G>A	ENSP00000304408.3:p.Ala170Thr
ENST00000317840.9:c.508G>A	ENSP00000315243.6:p.Ala170Thr
NM_000090.3:c.508G>A , LRG_3t1:c.508G>A	NP_000081.1:p.Ala170Thr
NM_000090.4:c.508G>A MANE Select	NP_000081.2:p.Ala170Thr