Canonical Allele Identifier: CA9886546

Gene: MMP9

Linked Data

• ClinVar Variation Id: 338550
• ClinVar RCV Id: RCV001520775
• dbSNP Id: rs17576
• ExAC: 20:44640225 A / G
• gnomAD v2: 20-44640225-A-G
• gnomAD v3: 20-46011586-A-G
• gnomAD v4: 20-46011586-A-G
• MyVariant Identifiers: chr20:g.44640225A>G (hg19) ; chr20:g.46011586A>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011586A>G , CM000682.2:g.46011586A>G	GRCh38
NC_000020.10:g.44640225A>G , CM000682.1:g.44640225A>G	GRCh37
NC_000020.9:g.44073632A>G	NCBI36
NG_011468.1:g.7679A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372330.3:c.836A>G MANE Select	ENSP00000361405.3:p.Gln279Arg
NM_004994.2:c.836A>G	NP_004985.2:p.Gln279Arg
NM_004994.3:c.836A>G MANE Select	NP_004985.2:p.Gln279Arg