Canonical Allele Identifier: CA349844050
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427009
dbSNP Id: rs1085307896

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004072G>A , CM000664.2:g.189004072G>A GRCh38
NC_000002.11:g.189868798G>A , CM000664.1:g.189868798G>A GRCh37
NC_000002.10:g.189577043G>A NCBI36
NG_007404.1:g.34700G>A , LRG_3:g.34700G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2653G>A ENSP00000415346.2:p.Gly885Arg
ENST00000304636.9:c.2752G>A MANE Select ENSP00000304408.4:p.Gly918Arg
ENST00000304636.7:c.2752G>A ENSP00000304408.3:p.Gly918Arg
ENST00000317840.9:c.2527+1036G>A ENSP00000315243.6:n.2527+1036G>A
NM_000090.3:c.2752G>A , LRG_3t1:c.2752G>A NP_000081.1:p.Gly918Arg
NM_000090.4:c.2752G>A MANE Select NP_000081.2:p.Gly918Arg