Canonical Allele Identifier: CA6247976
Gene: MMP7 HGNC NCBI
COSMIC:
COSM3752093 (not active)
MyVariant.info:
GRCh38 chr11:g.102527862C>T
GRCh37 chr11:g.102398593C>T
Revel Score:
ENST00000260227 (MANE Select) 0.069
gnomAD v2:
11:102398593 C / T
gnomAD v3:
11:102527862 C / T
gnomAD v4:
chr11-102527862-C-T
Joint Max Group AF 0.22517012 (NFE)
Genomes Max Group AF 0.22548992 (NFE)
Exomes Max Group AF 0.22498969 (NFE)
dbSNP:
10502001
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102527862C>T , CM000673.2:g.102527862C>T GRCh38
NC_000011.9:g.102398593C>T , CM000673.1:g.102398593C>T GRCh37
NC_000011.8:g.101903803C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260227.5:c.230G>A MANE Select ENSP00000260227.4:p.Arg77His
ENST00000260227.4:c.230G>A ENSP00000260227.4:p.Arg77His
ENST00000531200.1:n.277G>A
ENST00000533366.5:n.280G>A
NM_002423.3:c.230G>A NP_002414.1:p.Arg77His
NM_002423.4:c.230G>A NP_002414.1:p.Arg77His
NM_002423.5:c.230G>A MANE Select NP_002414.1:p.Arg77His
Search 100 bp 5'
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