Canonical Allele Identifier: CA14993068
Gene: MMP11 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.23771357C>T
GRCh37 chr22:g.24113544C>T
gnomAD v2:
22:24113544 C / T
gnomAD v3:
22:23771357 C / T
gnomAD v4:
chr22-23771357-C-T
Joint Max Group AF 0.88494118 (NFE)
Genomes Max Group AF 0.88496135 (NFE)
Exomes Max Group AF 0.227719 (NFE)
dbSNP:
131451
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23771357C>T , CM000684.2:g.23771357C>T GRCh38
NC_000022.10:g.24113544C>T , CM000684.1:g.24113544C>T GRCh37
NC_000022.9:g.22443544C>T NCBI36
NG_029443.1:g.3509C>T
NG_034223.1:g.1616G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465385.5:n.750+58C>T
ENST00000477567.5:n.272+50C>T
ENST00000489582.5:n.134+2564C>T
XR_001755453.1:n.758+50C>T
XR_001755454.1:n.750+58C>T
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