Canonical Allele Identifier: CA007651
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101108
ClinVar RCV Id: RCV000087345
dbSNP Id: rs587779422
MyVariant Identifiers: chr2:g.189856453G>A (hg19) chr2:g.188991727G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991727G>A , CM000664.2:g.188991727G>A GRCh38
NC_000002.11:g.189856453G>A , CM000664.1:g.189856453G>A GRCh37
NC_000002.10:g.189564698G>A NCBI36
NG_007404.1:g.22355G>A , LRG_3:g.22355G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.951+5G>A ENSP00000415346.2:n.951+5G>A
ENST00000304636.9:c.951+5G>A MANE Select ENSP00000304408.4:n.951+5G>A
ENST00000304636.7:c.951+5G>A ENSP00000304408.3:n.951+5G>A
ENST00000317840.9:c.951+5G>A ENSP00000315243.6:n.951+5G>A
ENST00000450867.1:c.49+5G>A
NM_000090.3:c.951+5G>A , LRG_3t1:c.951+5G>A NP_000081.1:n.951+5G>A
NM_000090.4:c.951+5G>A MANE Select NP_000081.2:n.951+5G>A
Search 100 bp 5'
Search 100 bp 3'