Canonical Allele Identifier: CA409209429
Gene: MMP9 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46008928T>G
GRCh37 chr20:g.44637567T>G
Revel Score:
ENST00000372330 (MANE Select) 0.411
gnomAD v3:
20:46008928 T / G
gnomAD v4:
chr20-46008928-T-G
Joint Max Group AF 0.00005201 (NFE)
Exomes Max Group AF 0.0000552 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46008928T>G , CM000682.2:g.46008928T>G GRCh38
NC_000020.10:g.44637567T>G , CM000682.1:g.44637567T>G GRCh37
NC_000020.9:g.44070974T>G NCBI36
NG_011468.1:g.5021T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.2T>G MANE Select ENSP00000361405.3:p.Met1Arg
NM_004994.2:c.2T>G NP_004985.2:p.Met1Arg
NM_004994.3:c.2T>G MANE Select NP_004985.2:p.Met1Arg
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