Canonical Allele Identifier: CA9886480

Gene: MMP9

Linked Data

• ClinVar Variation Id: 2719950
• ClinVar RCV Id: RCV003553851
• dbSNP Id: rs765092423
• ExAC: 20:44639785 T / C
• gnomAD v2: 20-44639785-T-C
• gnomAD v4: 20-46011146-T-C
• MyVariant Identifiers: chr20:g.44639785T>C (hg19) ; chr20:g.46011146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011146T>C , CM000682.2:g.46011146T>C	GRCh38
NC_000020.10:g.44639785T>C , CM000682.1:g.44639785T>C	GRCh37
NC_000020.9:g.44073192T>C	NCBI36
NG_011468.1:g.7239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.653T>C MANE Select	ENSP00000361405.3:p.Val218Ala
NM_004994.2:c.653T>C	NP_004985.2:p.Val218Ala
NM_004994.3:c.653T>C MANE Select	NP_004985.2:p.Val218Ala