Canonical Allele Identifier: CA315635150

Gene: MMP9

Linked Data

• ClinVar Variation Id: 3169992
• ClinVar RCV Id: RCV004458350
• dbSNP Id: rs199564350
• gnomAD v2: 20-44639851-C-G
• gnomAD v3: 20-46011212-C-G
• gnomAD v4: 20-46011212-C-G
• MyVariant Identifiers: chr20:g.44639851C>G (hg19) ; chr20:g.46011212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011212C>G , CM000682.2:g.46011212C>G	GRCh38
NC_000020.10:g.44639851C>G , CM000682.1:g.44639851C>G	GRCh37
NC_000020.9:g.44073258C>G	NCBI36
NG_011468.1:g.7305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.719C>G MANE Select	ENSP00000361405.3:p.Ser240Cys
NM_004994.2:c.719C>G	NP_004985.2:p.Ser240Cys
NM_004994.3:c.719C>G MANE Select	NP_004985.2:p.Ser240Cys