Canonical Allele Identifier: CA6247965

Gene: MMP7

Linked Data

• dbSNP Id: rs778676643
• ExAC: 11:102398546 C / G
• gnomAD v2: 11-102398546-C-G
• gnomAD v3: 11-102527815-C-G
• gnomAD v4: 11-102527815-C-G
• MyVariant Identifiers: chr11:g.102398546C>G (hg19) ; chr11:g.102527815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102527815C>G , CM000673.2:g.102527815C>G	GRCh38
NC_000011.9:g.102398546C>G , CM000673.1:g.102398546C>G	GRCh37
NC_000011.8:g.101903756C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260227.5:c.277G>C MANE Select	ENSP00000260227.4:p.Ala93Pro
ENST00000260227.4:c.277G>C	ENSP00000260227.4:p.Ala93Pro
ENST00000531200.1:n.324G>C
ENST00000533366.5:n.327G>C
NM_002423.3:c.277G>C	NP_002414.1:p.Ala93Pro
NM_002423.4:c.277G>C	NP_002414.1:p.Ala93Pro
NM_002423.5:c.277G>C MANE Select	NP_002414.1:p.Ala93Pro