Canonical Allele Identifier: CA006798
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17219
ClinVar RCV Id: RCV000018759
dbSNP Id: rs387906557

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188985737G>C , CM000664.2:g.188985737G>C GRCh38
NC_000002.11:g.189850463G>C , CM000664.1:g.189850463G>C GRCh37
NC_000002.10:g.189558708G>C NCBI36
NG_007404.1:g.16365G>C , LRG_3:g.16365G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.406G>C ENSP00000415346.2:p.Gly136Arg
ENST00000304636.9:c.406G>C MANE Select ENSP00000304408.4:p.Gly136Arg
ENST00000304636.7:c.406G>C ENSP00000304408.3:p.Gly136Arg
ENST00000317840.9:c.406G>C ENSP00000315243.6:p.Gly136Arg
NM_000090.3:c.406G>C , LRG_3t1:c.406G>C NP_000081.1:p.Gly136Arg
NM_000090.4:c.406G>C MANE Select NP_000081.2:p.Gly136Arg