Canonical Allele Identifier: CA349846593
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189873660G>A (hg19) chr2:g.189008934G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008934G>A , CM000664.2:g.189008934G>A GRCh38
NC_000002.11:g.189873660G>A , CM000664.1:g.189873660G>A GRCh37
NC_000002.10:g.189581905G>A NCBI36
NG_007404.1:g.39562G>A , LRG_3:g.39562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3437G>A ENSP00000415346.2:p.Gly1146Asp
ENST00000304636.9:c.3536G>A MANE Select ENSP00000304408.4:p.Gly1179Asp
ENST00000304636.7:c.3536G>A ENSP00000304408.3:p.Gly1179Asp
ENST00000317840.9:c.2627G>A ENSP00000315243.6:p.Gly876Asp
ENST00000487010.1:n.633G>A
NM_000090.3:c.3536G>A , LRG_3t1:c.3536G>A NP_000081.1:p.Gly1179Asp
NM_000090.4:c.3536G>A MANE Select NP_000081.2:p.Gly1179Asp
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