Canonical Allele Identifier: CA6251443

Gene: MMP12

Linked Data

• dbSNP Id: rs782418524
• ExAC: 11:102738032 C / T
• gnomAD v2: 11-102738032-C-T
• gnomAD v3: 11-102867301-C-T
• gnomAD v4: 11-102867301-C-T
• MyVariant Identifiers: chr11:g.102738032C>T (hg19) ; chr11:g.102867301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102867301C>T , CM000673.2:g.102867301C>T	GRCh38
NC_000011.9:g.102738032C>T , CM000673.1:g.102738032C>T	GRCh37
NC_000011.8:g.102243242C>T	NCBI36
NG_032936.1:g.12734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571244.3:c.880G>A MANE Select	ENSP00000458585.1:p.Val294Met
ENST00000571244.2:c.880G>A	ENSP00000458585.1:p.Val294Met
NM_002426.4:c.880G>A	NP_002417.2:p.Val294Met
NM_002426.5:c.880G>A	NP_002417.2:p.Val294Met
NM_002426.6:c.880G>A MANE Select	NP_002417.2:p.Val294Met