Canonical Allele Identifier: CA006624
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101441
ClinVar RCV Id: RCV000087679
dbSNP Id: rs587779683

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008942G>A , CM000664.2:g.189008942G>A GRCh38
NC_000002.11:g.189873668G>A , CM000664.1:g.189873668G>A GRCh37
NC_000002.10:g.189581913G>A NCBI36
NG_007404.1:g.39570G>A , LRG_3:g.39570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3445G>A ENSP00000415346.2:p.Gly1149Arg
ENST00000304636.9:c.3544G>A MANE Select ENSP00000304408.4:p.Gly1182Arg
ENST00000304636.7:c.3544G>A ENSP00000304408.3:p.Gly1182Arg
ENST00000317840.9:c.2635G>A ENSP00000315243.6:p.Gly879Arg
ENST00000487010.1:n.641G>A
NM_000090.3:c.3544G>A , LRG_3t1:c.3544G>A NP_000081.1:p.Gly1182Arg
NM_000090.4:c.3544G>A MANE Select NP_000081.2:p.Gly1182Arg