Canonical Allele Identifier: CA6247933
Gene: MMP7 HGNC NCBI

Linked Data

dbSNP Id: rs775598119
ExAC: 11:102398399 C / T
gnomAD v2: 11-102398399-C-T
gnomAD v3: 11-102527668-C-T
gnomAD v4: 11-102527668-C-T
COSMIC: COSM124471
MyVariant Identifiers: chr11:g.102398399C>T (hg19) chr11:g.102527668C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102527668C>T , CM000673.2:g.102527668C>T GRCh38
NC_000011.9:g.102398399C>T , CM000673.1:g.102398399C>T GRCh37
NC_000011.8:g.101903609C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260227.5:c.340G>A MANE Select ENSP00000260227.4:p.Val114Ile
ENST00000260227.4:c.340G>A ENSP00000260227.4:p.Val114Ile
ENST00000531200.1:n.387G>A
ENST00000533366.5:n.390G>A
NM_002423.3:c.340G>A NP_002414.1:p.Val114Ile
NM_002423.4:c.340G>A NP_002414.1:p.Val114Ile
NM_002423.5:c.340G>A MANE Select NP_002414.1:p.Val114Ile
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