Canonical Allele Identifier: CA14798990
Gene: MMP9 HGNC NCBI
dbSNP:
3918249
gnomAD v2:
20:44638136 T / C
gnomAD v3:
20:46009497 T / C
gnomAD v4:
chr20-46009497-T-C
Joint Max Group AF 0.70656924 (EAS)
Genomes Max Group AF 0.70656924 (EAS)
MyVariant.info:
GRCh38 chr20:g.46009497T>C
GRCh37 chr20:g.44638136T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46009497T>C , CM000682.2:g.46009497T>C GRCh38
NC_000020.10:g.44638136T>C , CM000682.1:g.44638136T>C GRCh37
NC_000020.9:g.44071543T>C NCBI36
NG_011468.1:g.5590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.139-369T>C MANE Select ENSP00000361405.3:n.139-369T>C
NM_004994.2:c.139-369T>C NP_004985.2:n.139-369T>C
NM_004994.3:c.139-369T>C MANE Select NP_004985.2:n.139-369T>C
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