Canonical Allele Identifier: CA349849497
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2813579
ClinVar RCV Id: RCV003634672
dbSNP Id: rs1576474434
MyVariant Identifiers: chr2:g.189875510G>A (hg19) chr2:g.189010784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010784G>A , CM000664.2:g.189010784G>A GRCh38
NC_000002.11:g.189875510G>A , CM000664.1:g.189875510G>A GRCh37
NC_000002.10:g.189583755G>A NCBI36
NG_007404.1:g.41412G>A , LRG_3:g.41412G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.4049G>A ENSP00000415346.2:p.Ser1350Asn
ENST00000304636.9:c.4148G>A MANE Select ENSP00000304408.4:p.Ser1383Asn
ENST00000304636.7:c.4148G>A ENSP00000304408.3:p.Ser1383Asn
ENST00000317840.9:c.3239G>A ENSP00000315243.6:p.Ser1080Asn
ENST00000487010.1:n.1527G>A
NM_000090.3:c.4148G>A , LRG_3t1:c.4148G>A NP_000081.1:p.Ser1383Asn
NM_000090.4:c.4148G>A MANE Select NP_000081.2:p.Ser1383Asn
Search 100 bp 5'
Search 100 bp 3'