Canonical Allele Identifier: CA007064
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101260
ClinVar RCV Id: RCV000087497
dbSNP Id: rs397509375
MyVariant Identifiers: chr2:g.189852866T>A (hg19) chr2:g.188988140T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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