Canonical Allele Identifier: CA074019

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1023621
• ClinVar RCV Id: RCV001323698 ; RCV001586127 ; RCV002476524 ; RCV003994266
• dbSNP Id: rs200446048
• ExAC: 2:189859003 G / A
• gnomAD v2: 2-189859003-G-A
• gnomAD v3: 2-188994277-G-A
• gnomAD v4: 2-188994277-G-A
• COSMIC: COSM1559553 ; COSM3407405
• MyVariant Identifiers: chr2:g.189859003G>A (hg19) ; chr2:g.188994277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994277G>A , CM000664.2:g.188994277G>A	GRCh38
NC_000002.11:g.189859003G>A , CM000664.1:g.189859003G>A	GRCh37
NC_000002.10:g.189567248G>A	NCBI36
NG_007404.1:g.24905G>A , LRG_3:g.24905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1139G>A	ENSP00000415346.2:p.Arg380Gln
ENST00000304636.9:c.1238G>A MANE Select	ENSP00000304408.4:p.Arg413Gln
ENST00000304636.7:c.1238G>A	ENSP00000304408.3:p.Arg413Gln
ENST00000317840.9:c.1238G>A	ENSP00000315243.6:p.Arg413Gln
ENST00000450867.1:c.237G>A
NM_000090.3:c.1238G>A , LRG_3t1:c.1238G>A	NP_000081.1:p.Arg413Gln
NM_000090.4:c.1238G>A MANE Select	NP_000081.2:p.Arg413Gln