Canonical Allele Identifier: CA349845888
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189007587-C-A
MyVariant Identifiers: chr2:g.189872313C>A (hg19) chr2:g.189007587C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007587C>A , CM000664.2:g.189007587C>A GRCh38
NC_000002.11:g.189872313C>A , CM000664.1:g.189872313C>A GRCh37
NC_000002.10:g.189580558C>A NCBI36
NG_007404.1:g.38215C>A , LRG_3:g.38215C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3244C>A ENSP00000415346.2:p.Pro1082Thr
ENST00000304636.9:c.3343C>A MANE Select ENSP00000304408.4:p.Pro1115Thr
ENST00000304636.7:c.3343C>A ENSP00000304408.3:p.Pro1115Thr
ENST00000317840.9:c.2528-467C>A ENSP00000315243.6:n.2528-467C>A
NM_000090.3:c.3343C>A , LRG_3t1:c.3343C>A NP_000081.1:p.Pro1115Thr
NM_000090.4:c.3343C>A MANE Select NP_000081.2:p.Pro1115Thr
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