Canonical Allele Identifier: CA007579
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180295
ClinVar RCV Id: RCV000157139
dbSNP Id: rs730880061

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991682C>A , CM000664.2:g.188991682C>A GRCh38
NC_000002.11:g.189856408C>A , CM000664.1:g.189856408C>A GRCh37
NC_000002.10:g.189564653C>A NCBI36
NG_007404.1:g.22310C>A , LRG_3:g.22310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.911C>A ENSP00000415346.2:p.Ala304Asp
ENST00000304636.9:c.911C>A MANE Select ENSP00000304408.4:p.Ala304Asp
ENST00000304636.7:c.911C>A ENSP00000304408.3:p.Ala304Asp
ENST00000317840.9:c.911C>A ENSP00000315243.6:p.Ala304Asp
ENST00000450867.1:c.9C>A
NM_000090.3:c.911C>A , LRG_3t1:c.911C>A NP_000081.1:p.Ala304Asp
NM_000090.4:c.911C>A MANE Select NP_000081.2:p.Ala304Asp