Canonical Allele Identifier: CA9886361
Gene: MMP9 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46010142A>G
GRCh37 chr20:g.44638781A>G
gnomAD v2:
20:44638781 A / G
gnomAD v3:
20:46010142 A / G
gnomAD v4:
chr20-46010142-A-G
Joint Max Group AF 0.63972074 (EAS)
Genomes Max Group AF 0.64625816 (EAS)
Exomes Max Group AF 0.63652987 (EAS)
ClinVar RCV:
RCV001595368
ClinVar Variation:
1220806
dbSNP:
3918251
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010142A>G , CM000682.2:g.46010142A>G GRCh38
NC_000020.10:g.44638781A>G , CM000682.1:g.44638781A>G GRCh37
NC_000020.9:g.44072188A>G NCBI36
NG_011468.1:g.6235A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.371+44A>G MANE Select ENSP00000361405.3:n.371+44A>G
NM_004994.2:c.371+44A>G NP_004985.2:n.371+44A>G
NM_004994.3:c.371+44A>G MANE Select NP_004985.2:n.371+44A>G
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