Canonical Allele Identifier: CA349852021
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459763
ClinVar RCV Id: RCV000546683
dbSNP Id: rs1057524653
MyVariant Identifiers: chr2:g.189859800G>A (hg19) chr2:g.188995074G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188995074G>A , CM000664.2:g.188995074G>A GRCh38
NC_000002.11:g.189859800G>A , CM000664.1:g.189859800G>A GRCh37
NC_000002.10:g.189568045G>A NCBI36
NG_007404.1:g.25702G>A , LRG_3:g.25702G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1385G>A ENSP00000415346.2:p.Gly462Glu
ENST00000304636.9:c.1484G>A MANE Select ENSP00000304408.4:p.Gly495Glu
ENST00000304636.7:c.1484G>A ENSP00000304408.3:p.Gly495Glu
ENST00000317840.9:c.1484G>A ENSP00000315243.6:p.Gly495Glu
NM_000090.3:c.1484G>A , LRG_3t1:c.1484G>A NP_000081.1:p.Gly495Glu
NM_000090.4:c.1484G>A MANE Select NP_000081.2:p.Gly495Glu
Search 100 bp 5'
Search 100 bp 3'