Canonical Allele Identifier: CA409214660
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099700
ClinVar RCV Id: RCV003021839
gnomAD v4: 20-46011607-A-T
MyVariant Identifiers: chr20:g.44640246A>T (hg19) chr20:g.46011607A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011607A>T , CM000682.2:g.46011607A>T GRCh38
NC_000020.10:g.44640246A>T , CM000682.1:g.44640246A>T GRCh37
NC_000020.9:g.44073653A>T NCBI36
NG_011468.1:g.7700A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.857A>T MANE Select ENSP00000361405.3:p.Lys286Ile
NM_004994.2:c.857A>T NP_004985.2:p.Lys286Ile
NM_004994.3:c.857A>T MANE Select NP_004985.2:p.Lys286Ile
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