Canonical Allele Identifier: CA007073
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17220
ClinVar RCV Id: RCV000018760
dbSNP Id: rs397509375
MyVariant Identifiers: chr2:g.189852866T>C (hg19) chr2:g.188988140T>C (hg38)
PubMed: PMID:8320698
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988140T>C , CM000664.2:g.188988140T>C GRCh38
NC_000002.11:g.189852866T>C , CM000664.1:g.189852866T>C GRCh37
NC_000002.10:g.189561111T>C NCBI36
NG_007404.1:g.18768T>C , LRG_3:g.18768T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.582+6T>C ENSP00000415346.2:n.582+6T>C
ENST00000304636.9:c.582+6T>C MANE Select ENSP00000304408.4:n.582+6T>C
ENST00000304636.7:c.582+6T>C ENSP00000304408.3:n.582+6T>C
ENST00000317840.9:c.582+6T>C ENSP00000315243.6:n.582+6T>C
NM_000090.3:c.582+6T>C , LRG_3t1:c.582+6T>C NP_000081.1:n.582+6T>C
NM_000090.4:c.582+6T>C MANE Select NP_000081.2:n.582+6T>C
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