Canonical Allele Identifier: CA538441385
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1480790275
gnomAD v2: 2-189862312-C-A
gnomAD v3: 2-188997586-C-A
gnomAD v4: 2-188997586-C-A
MyVariant Identifiers: chr2:g.189862312C>A (hg19) chr2:g.188997586C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188997586C>A , CM000664.2:g.188997586C>A GRCh38
NC_000002.11:g.189862312C>A , CM000664.1:g.189862312C>A GRCh37
NC_000002.10:g.189570557C>A NCBI36
NG_007404.1:g.28214C>A , LRG_3:g.28214C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1771-114C>A ENSP00000415346.2:n.1771-114C>A
ENST00000304636.9:c.1870-114C>A MANE Select ENSP00000304408.4:n.1870-114C>A
ENST00000304636.7:c.1870-114C>A ENSP00000304408.3:n.1870-114C>A
ENST00000317840.9:c.1870-114C>A ENSP00000315243.6:n.1870-114C>A
NM_000090.3:c.1870-114C>A , LRG_3t1:c.1870-114C>A NP_000081.1:n.1870-114C>A
NM_000090.4:c.1870-114C>A MANE Select NP_000081.2:n.1870-114C>A
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