Canonical Allele Identifier: CA9886442
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 773609
ClinVar RCV Id: RCV000953393 RCV001138124 RCV003903243
dbSNP Id: rs55789927
ExAC: 20:44639599 C / T
gnomAD v2: 20-44639599-C-T
gnomAD v3: 20-46010960-C-T
gnomAD v4: 20-46010960-C-T
MyVariant Identifiers: chr20:g.44639599C>T (hg19) chr20:g.46010960C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010960C>T , CM000682.2:g.46010960C>T GRCh38
NC_000020.10:g.44639599C>T , CM000682.1:g.44639599C>T GRCh37
NC_000020.9:g.44073006C>T NCBI36
NG_011468.1:g.7053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.559C>T MANE Select ENSP00000361405.3:p.Leu187Phe
NM_004994.2:c.559C>T NP_004985.2:p.Leu187Phe
NM_004994.3:c.559C>T MANE Select NP_004985.2:p.Leu187Phe
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