Canonical Allele Identifier: CA430309546
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449900
ClinVar RCV Id: RCV000521054 RCV002525143 RCV003528182
dbSNP Id: rs1553507953
gnomAD v3: 2-188994585-T-A
gnomAD v4: 2-188994585-T-A
MyVariant Identifiers: chr2:g.189859311T>A (hg19) chr2:g.188994585T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994585T>A , CM000664.2:g.188994585T>A GRCh38
NC_000002.11:g.189859311T>A , CM000664.1:g.189859311T>A GRCh37
NC_000002.10:g.189567556T>A NCBI36
NG_007404.1:g.25213T>A , LRG_3:g.25213T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1239T>A ENSP00000415346.2:p.Arg413=
ENST00000304636.9:c.1338T>A MANE Select ENSP00000304408.4:p.Arg446=
ENST00000304636.7:c.1338T>A ENSP00000304408.3:p.Arg446=
ENST00000317840.9:c.1338T>A ENSP00000315243.6:p.Arg446=
NM_000090.3:c.1338T>A , LRG_3t1:c.1338T>A NP_000081.1:p.Arg446=
NM_000090.4:c.1338T>A MANE Select NP_000081.2:p.Arg446=
Search 100 bp 5'
Search 100 bp 3'