Canonical Allele Identifier: CA409212880

Gene: MMP9

Linked Data

• dbSNP Id: rs200799611
• gnomAD v4: 20-46010944-C-A
• MyVariant Identifiers: chr20:g.44639583C>A (hg19) ; chr20:g.46010944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46010944C>A , CM000682.2:g.46010944C>A	GRCh38
NC_000020.10:g.44639583C>A , CM000682.1:g.44639583C>A	GRCh37
NC_000020.9:g.44072990C>A	NCBI36
NG_011468.1:g.7037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372330.3:c.543C>A MANE Select	ENSP00000361405.3:p.Phe181Leu
NM_004994.2:c.543C>A	NP_004985.2:p.Phe181Leu
NM_004994.3:c.543C>A MANE Select	NP_004985.2:p.Phe181Leu