Canonical Allele Identifier: CA004311

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199722
• ClinVar RCV Id: RCV000181083 ; RCV003298228
• dbSNP Id: rs774551212
• ExAC: 2:189859788 G / A
• gnomAD v2: 2-189859788-G-A
• gnomAD v3: 2-188995062-G-A
• gnomAD v4: 2-188995062-G-A
• MyVariant Identifiers: chr2:g.189859788G>A (hg19) ; chr2:g.188995062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188995062G>A , CM000664.2:g.188995062G>A	GRCh38
NC_000002.11:g.189859788G>A , CM000664.1:g.189859788G>A	GRCh37
NC_000002.10:g.189568033G>A	NCBI36
NG_007404.1:g.25690G>A , LRG_3:g.25690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.1373G>A	ENSP00000415346.2:p.Arg458Gln
ENST00000304636.9:c.1472G>A MANE Select	ENSP00000304408.4:p.Arg491Gln
ENST00000304636.7:c.1472G>A	ENSP00000304408.3:p.Arg491Gln
ENST00000317840.9:c.1472G>A	ENSP00000315243.6:p.Arg491Gln
NM_000090.3:c.1472G>A , LRG_3t1:c.1472G>A	NP_000081.1:p.Arg491Gln
NM_000090.4:c.1472G>A MANE Select	NP_000081.2:p.Arg491Gln