Canonical Allele Identifier: CA315635354

Gene: MMP9

Linked Data

• ClinVar Variation Id: 2903282
• ClinVar RCV Id: RCV003726650
• dbSNP Id: rs766897916
• gnomAD v2: 20-44640273-A-C
• gnomAD v3: 20-46011634-A-C
• gnomAD v4: 20-46011634-A-C
• MyVariant Identifiers: chr20:g.44640273A>C (hg19) ; chr20:g.46011634A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46011634A>C , CM000682.2:g.46011634A>C	GRCh38
NC_000020.10:g.44640273A>C , CM000682.1:g.44640273A>C	GRCh37
NC_000020.9:g.44073680A>C	NCBI36
NG_011468.1:g.7727A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.884A>C MANE Select	ENSP00000361405.3:p.Gln295Pro
NM_004994.2:c.884A>C	NP_004985.2:p.Gln295Pro
NM_004994.3:c.884A>C MANE Select	NP_004985.2:p.Gln295Pro