Canonical Allele Identifier: CA005762
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101121
ClinVar RCV Id: RCV000087358
dbSNP Id: rs587779434
MyVariant Identifiers: chr2:g.189869020G>A (hg19) chr2:g.189004294G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004294G>A , CM000664.2:g.189004294G>A GRCh38
NC_000002.11:g.189869020G>A , CM000664.1:g.189869020G>A GRCh37
NC_000002.10:g.189577265G>A NCBI36
NG_007404.1:g.34922G>A , LRG_3:g.34922G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2762G>A ENSP00000415346.2:p.Gly921Glu
ENST00000304636.9:c.2861G>A MANE Select ENSP00000304408.4:p.Gly954Glu
ENST00000304636.7:c.2861G>A ENSP00000304408.3:p.Gly954Glu
ENST00000317840.9:c.2527+1258G>A ENSP00000315243.6:n.2527+1258G>A
NM_000090.3:c.2861G>A , LRG_3t1:c.2861G>A NP_000081.1:p.Gly954Glu
NM_000090.4:c.2861G>A MANE Select NP_000081.2:p.Gly954Glu
Search 100 bp 5'
Search 100 bp 3'