Canonical Allele Identifier: CA430312849
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189006416-C-A
MyVariant Identifiers: chr2:g.189871142C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006416C>A , CM000664.2:g.189006416C>A GRCh38
NC_000002.11:g.189871142C>A , CM000664.1:g.189871142C>A GRCh37
NC_000002.10:g.189579387C>A NCBI36
NG_007404.1:g.37044C>A , LRG_3:g.37044C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3066C>A ENSP00000415346.2:p.Val1022=
ENST00000304636.9:c.3165C>A MANE Select ENSP00000304408.4:p.Val1055=
ENST00000304636.7:c.3165C>A ENSP00000304408.3:p.Val1055=
ENST00000317840.9:c.2528-1638C>A ENSP00000315243.6:n.2528-1638C>A
NM_000090.3:c.3165C>A , LRG_3t1:c.3165C>A NP_000081.1:p.Val1055=
NM_000090.4:c.3165C>A MANE Select NP_000081.2:p.Val1055=
Search 100 bp 5'
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