Canonical Allele Identifier: CA2573051816
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331842
ClinVar RCV Id: RCV001804358
dbSNP Id: rs2153502633
gnomAD v4: 2-188996184-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996184T>C , CM000664.2:g.188996184T>C GRCh38
NC_000002.11:g.189860910T>C , CM000664.1:g.189860910T>C GRCh37
NC_000002.10:g.189569155T>C NCBI36
NG_007404.1:g.26812T>C , LRG_3:g.26812T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1563+6T>C ENSP00000415346.2:n.1563+6T>C
ENST00000304636.9:c.1662+6T>C MANE Select ENSP00000304408.4:n.1662+6T>C
ENST00000304636.7:c.1662+6T>C ENSP00000304408.3:n.1662+6T>C
ENST00000317840.9:c.1662+6T>C ENSP00000315243.6:n.1662+6T>C
NM_000090.3:c.1662+6T>C , LRG_3t1:c.1662+6T>C NP_000081.1:n.1662+6T>C
NM_000090.4:c.1662+6T>C MANE Select NP_000081.2:n.1662+6T>C
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