Canonical Allele Identifier: CA004074
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101280
ClinVar RCV Id: RCV000087518
dbSNP Id: rs587779569
MyVariant Identifiers: chr2:g.189858160G>A (hg19) chr2:g.188993434G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993434G>A , CM000664.2:g.188993434G>A GRCh38
NC_000002.11:g.189858160G>A , CM000664.1:g.189858160G>A GRCh37
NC_000002.10:g.189566405G>A NCBI36
NG_007404.1:g.24062G>A , LRG_3:g.24062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+494G>A ENSP00000415346.2:n.1050+494G>A
ENST00000304636.9:c.1124G>A MANE Select ENSP00000304408.4:p.Gly375Glu
ENST00000304636.7:c.1124G>A ENSP00000304408.3:p.Gly375Glu
ENST00000317840.9:c.1124G>A ENSP00000315243.6:p.Gly375Glu
ENST00000450867.1:c.148+494G>A
NM_000090.3:c.1124G>A , LRG_3t1:c.1124G>A NP_000081.1:p.Gly375Glu
NM_000090.4:c.1124G>A MANE Select NP_000081.2:p.Gly375Glu
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