Canonical Allele Identifier: CA409213234
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1973763
ClinVar RCV Id: RCV002736246
dbSNP Id: rs1382740469
gnomAD v3: 20-46011158-T-G
gnomAD v4: 20-46011158-T-G
MyVariant Identifiers: chr20:g.44639797T>G (hg19) chr20:g.46011158T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011158T>G , CM000682.2:g.46011158T>G GRCh38
NC_000020.10:g.44639797T>G , CM000682.1:g.44639797T>G GRCh37
NC_000020.9:g.44073204T>G NCBI36
NG_011468.1:g.7251T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.665T>G MANE Select ENSP00000361405.3:p.Phe222Cys
NM_004994.2:c.665T>G NP_004985.2:p.Phe222Cys
NM_004994.3:c.665T>G MANE Select NP_004985.2:p.Phe222Cys
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