Canonical Allele Identifier: CA005856
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101326
ClinVar RCV Id: RCV000087564
dbSNP Id: rs587779559
MyVariant Identifiers: chr2:g.189869074G>C (hg19) chr2:g.189004348G>C (hg38)
PubMed: PMID:10706896
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004348G>C , CM000664.2:g.189004348G>C GRCh38
NC_000002.11:g.189869074G>C , CM000664.1:g.189869074G>C GRCh37
NC_000002.10:g.189577319G>C NCBI36
NG_007404.1:g.34976G>C , LRG_3:g.34976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2816G>C ENSP00000415346.2:p.Gly939Ala
ENST00000304636.9:c.2915G>C MANE Select ENSP00000304408.4:p.Gly972Ala
ENST00000304636.7:c.2915G>C ENSP00000304408.3:p.Gly972Ala
ENST00000317840.9:c.2527+1312G>C ENSP00000315243.6:n.2527+1312G>C
NM_000090.3:c.2915G>C , LRG_3t1:c.2915G>C NP_000081.1:p.Gly972Ala
NM_000090.4:c.2915G>C MANE Select NP_000081.2:p.Gly972Ala
Search 100 bp 5'
Search 100 bp 3'