Canonical Allele Identifier: CA315634356
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1277947
ClinVar RCV Id: RCV001694688
dbSNP Id: rs79845319
gnomAD v2: 20-44638971-A-C
gnomAD v3: 20-46010332-A-C
gnomAD v4: 20-46010332-A-C
COSMIC: COSN19769025
MyVariant Identifiers: chr20:g.44638971A>C (hg19) chr20:g.46010332A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46010332A>C , CM000682.2:g.46010332A>C GRCh38
NC_000020.10:g.44638971A>C , CM000682.1:g.44638971A>C GRCh37
NC_000020.9:g.44072378A>C NCBI36
NG_011468.1:g.6425A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.372-151A>C MANE Select ENSP00000361405.3:n.372-151A>C
NM_004994.2:c.372-151A>C NP_004985.2:n.372-151A>C
NM_004994.3:c.372-151A>C MANE Select NP_004985.2:n.372-151A>C
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