Canonical Allele Identifier: CA7105251
Gene: MMP14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1237040
ClinVar RCV Id: RCV001639555
dbSNP Id: rs1042704
ExAC: 14:23312594 G / A
gnomAD v2: 14-23312594-G-A
gnomAD v3: 14-22843385-G-A
gnomAD v4: 14-22843385-G-A
MyVariant Identifiers: chr14:g.23312594G>A (hg19) chr14:g.22843385G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843385G>A , CM000676.2:g.22843385G>A GRCh38
NC_000014.8:g.23312594G>A , CM000676.1:g.23312594G>A GRCh37
NC_000014.7:g.22382434G>A NCBI36
NG_046989.1:g.11853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.817G>A MANE Select ENSP00000308208.6:p.Asp273Asn
ENST00000548162.2:c.817G>A ENSP00000506068.1:p.Asp273Asn
ENST00000680097.1:c.*132G>A ENSP00000506631.1:n.*132G>A
ENST00000680941.1:c.*215G>A ENSP00000506378.1:n.*215G>A
ENST00000311852.10:c.817G>A ENSP00000308208.6:p.Asp273Asn
ENST00000548162.1:n.1059G>A
NM_004995.3:c.817G>A NP_004986.1:p.Asp273Asn
NM_004995.4:c.817G>A MANE Select NP_004986.1:p.Asp273Asn
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Search 100 bp 3'