Canonical Allele Identifier: CA9886454
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2362160
ClinVar RCV Id: RCV004199195
dbSNP Id: rs770222441
ExAC: 20:44639647 C / T
gnomAD v2: 20-44639647-C-T
gnomAD v4: 20-46011008-C-T
MyVariant Identifiers: chr20:g.44639647C>T (hg19) chr20:g.46011008C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011008C>T , CM000682.2:g.46011008C>T GRCh38
NC_000020.10:g.44639647C>T , CM000682.1:g.44639647C>T GRCh37
NC_000020.9:g.44073054C>T NCBI36
NG_011468.1:g.7101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.607C>T MANE Select ENSP00000361405.3:p.His203Tyr
NM_004994.2:c.607C>T NP_004985.2:p.His203Tyr
NM_004994.3:c.607C>T MANE Select NP_004985.2:p.His203Tyr
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