Canonical Allele Identifier: CA349845759
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189007557-A-C
MyVariant Identifiers: chr2:g.189872283A>C (hg19) chr2:g.189007557A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007557A>C , CM000664.2:g.189007557A>C GRCh38
NC_000002.11:g.189872283A>C , CM000664.1:g.189872283A>C GRCh37
NC_000002.10:g.189580528A>C NCBI36
NG_007404.1:g.38185A>C , LRG_3:g.38185A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3214A>C ENSP00000415346.2:p.Ile1072Leu
ENST00000304636.9:c.3313A>C MANE Select ENSP00000304408.4:p.Ile1105Leu
ENST00000304636.7:c.3313A>C ENSP00000304408.3:p.Ile1105Leu
ENST00000317840.9:c.2528-497A>C ENSP00000315243.6:n.2528-497A>C
NM_000090.3:c.3313A>C , LRG_3t1:c.3313A>C NP_000081.1:p.Ile1105Leu
NM_000090.4:c.3313A>C MANE Select NP_000081.2:p.Ile1105Leu
Search 100 bp 5'
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