Canonical Allele Identifier: CA6248294

Gene: MMP20 MMP20-AS1

Linked Data

• ClinVar Variation Id: 301943
• ClinVar RCV Id: RCV000312634 ; RCV004021491
• dbSNP Id: rs146876571
• ExAC: 11:102477336 G / C
• gnomAD v2: 11-102477336-G-C
• gnomAD v3: 11-102606605-G-C
• gnomAD v4: 11-102606605-G-C
• MyVariant Identifiers: chr11:g.102477336G>C (hg19) ; chr11:g.102606605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102606605G>C , CM000673.2:g.102606605G>C	GRCh38
NC_000011.9:g.102477336G>C , CM000673.1:g.102477336G>C	GRCh37
NC_000011.8:g.101982546G>C	NCBI36
NG_012151.1:g.23728C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260228.3:c.883C>G (MMP20) MANE Select	ENSP00000260228.2:p.Leu295Val
ENST00000260228.2:c.883C>G (MMP20)	ENSP00000260228.2:p.Leu295Val
ENST00000544938.1:n.339C>G (MMP20)
NM_004771.3:c.883C>G (MMP20)	NP_004762.2:p.Leu295Val
XR_947956.1:n.448G>C
XR_001748340.1:n.1192G>C (MMP20-AS1)
NM_004771.4:c.883C>G (MMP20) MANE Select	NP_004762.2:p.Leu295Val