Canonical Allele Identifier: CA6251038
Gene: MMP3 HGNC NCBI
gnomAD v2:
11:102711338 T / C
gnomAD v3:
11:102840607 T / C
gnomAD v4:
chr11-102840607-T-C
Joint Max Group AF 0.67448064 (EAS)
Genomes Max Group AF 0.67779022 (SAS)
Exomes Max Group AF 0.6867785 (AMR)
ClinVar Allele:
390561
ClinVar RCV:
RCV000454459
RCV001653800
ClinVar Variation:
403095
dbSNP:
591058
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102840607T>C , CM000673.2:g.102840607T>C GRCh38
NC_000011.9:g.102711338T>C , CM000673.1:g.102711338T>C GRCh37
NC_000011.8:g.102216548T>C NCBI36
NG_012100.1:g.8005A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299855.10:c.626-14A>G MANE Select ENSP00000299855.5:n.626-14A>G
ENST00000299855.9:c.626-14A>G ENSP00000299855.5:n.626-14A>G
NM_002422.3:c.626-14A>G NP_002413.1:n.626-14A>G
NM_002422.4:c.626-14A>G NP_002413.1:n.626-14A>G
NM_002422.5:c.626-14A>G MANE Select NP_002413.1:n.626-14A>G
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