Canonical Allele Identifier: CA349851542
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767892
ClinVar RCV Id: RCV002376651

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994319T>A , CM000664.2:g.188994319T>A GRCh38
NC_000002.11:g.189859045T>A , CM000664.1:g.189859045T>A GRCh37
NC_000002.10:g.189567290T>A NCBI36
NG_007404.1:g.24947T>A , LRG_3:g.24947T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1181T>A ENSP00000415346.2:p.Leu394Gln
ENST00000304636.9:c.1280T>A MANE Select ENSP00000304408.4:p.Leu427Gln
ENST00000304636.7:c.1280T>A ENSP00000304408.3:p.Leu427Gln
ENST00000317840.9:c.1280T>A ENSP00000315243.6:p.Leu427Gln
NM_000090.3:c.1280T>A , LRG_3t1:c.1280T>A NP_000081.1:p.Leu427Gln
NM_000090.4:c.1280T>A MANE Select NP_000081.2:p.Leu427Gln