Canonical Allele Identifier: CA6251199

Gene: MMP3

Linked Data

• ClinVar Variation Id: 403096
• ClinVar RCV Id: RCV001707693
• dbSNP Id: rs41380244
• ExAC: 11:102713447 G / C
• gnomAD v2: 11-102713447-G-C
• gnomAD v3: 11-102842716-G-C
• gnomAD v4: 11-102842716-G-C
• MyVariant Identifiers: chr11:g.102713447G>C (hg19) ; chr11:g.102842716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102842716G>C , CM000673.2:g.102842716G>C	GRCh38
NC_000011.9:g.102713447G>C , CM000673.1:g.102713447G>C	GRCh37
NC_000011.8:g.102218657G>C	NCBI36
NG_012100.1:g.5896C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299855.10:c.306C>G MANE Select	ENSP00000299855.5:p.Thr102=
ENST00000299855.9:c.306C>G	ENSP00000299855.5:p.Thr102=
ENST00000524478.1:c.*148C>G	ENSP00000435255.1:n.*148C>G
NM_002422.3:c.306C>G	NP_002413.1:p.Thr102=
NM_002422.4:c.306C>G	NP_002413.1:p.Thr102=
NM_002422.5:c.306C>G MANE Select	NP_002413.1:p.Thr102=