Canonical Allele Identifier: CA349845734
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189872275C>A (hg19) chr2:g.189007549C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007549C>A , CM000664.2:g.189007549C>A GRCh38
NC_000002.11:g.189872275C>A , CM000664.1:g.189872275C>A GRCh37
NC_000002.10:g.189580520C>A NCBI36
NG_007404.1:g.38177C>A , LRG_3:g.38177C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3206C>A ENSP00000415346.2:p.Ala1069Asp
ENST00000304636.9:c.3305C>A MANE Select ENSP00000304408.4:p.Ala1102Asp
ENST00000304636.7:c.3305C>A ENSP00000304408.3:p.Ala1102Asp
ENST00000317840.9:c.2528-505C>A ENSP00000315243.6:n.2528-505C>A
NM_000090.3:c.3305C>A , LRG_3t1:c.3305C>A NP_000081.1:p.Ala1102Asp
NM_000090.4:c.3305C>A MANE Select NP_000081.2:p.Ala1102Asp
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