Canonical Allele Identifier: CA349849226
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1159996240
MyVariant Identifiers: chr2:g.189875406T>A (hg19) chr2:g.189010680T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010680T>A , CM000664.2:g.189010680T>A GRCh38
NC_000002.11:g.189875406T>A , CM000664.1:g.189875406T>A GRCh37
NC_000002.10:g.189583651T>A NCBI36
NG_007404.1:g.41308T>A , LRG_3:g.41308T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3945T>A ENSP00000415346.2:p.Asp1315Glu
ENST00000304636.9:c.4044T>A MANE Select ENSP00000304408.4:p.Asp1348Glu
ENST00000304636.7:c.4044T>A ENSP00000304408.3:p.Asp1348Glu
ENST00000317840.9:c.3135T>A ENSP00000315243.6:p.Asp1045Glu
ENST00000487010.1:n.1423T>A
NM_000090.3:c.4044T>A , LRG_3t1:c.4044T>A NP_000081.1:p.Asp1348Glu
NM_000090.4:c.4044T>A MANE Select NP_000081.2:p.Asp1348Glu
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