Canonical Allele Identifier: CA9886517
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1947126
ClinVar RCV Id: RCV002685416
dbSNP Id: rs780133160
ExAC: 20:44639968 G / A
gnomAD v2: 20-44639968-G-A
gnomAD v3: 20-46011329-G-A
gnomAD v4: 20-46011329-G-A
MyVariant Identifiers: chr20:g.44639968G>A (hg19) chr20:g.46011329G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011329G>A , CM000682.2:g.46011329G>A GRCh38
NC_000020.10:g.44639968G>A , CM000682.1:g.44639968G>A GRCh37
NC_000020.9:g.44073375G>A NCBI36
NG_011468.1:g.7422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.823+13G>A MANE Select ENSP00000361405.3:n.823+13G>A
NM_004994.2:c.823+13G>A NP_004985.2:n.823+13G>A
NM_004994.3:c.823+13G>A MANE Select NP_004985.2:n.823+13G>A
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