Canonical Allele Identifier: CA7105254
Gene: MMP14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377531
ClinVar RCV Id: RCV001889927
dbSNP Id: rs145239346
ExAC: 14:23312603 C / T
gnomAD v2: 14-23312603-C-T
gnomAD v3: 14-22843394-C-T
gnomAD v4: 14-22843394-C-T
MyVariant Identifiers: chr14:g.23312603C>T (hg19) chr14:g.22843394C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843394C>T , CM000676.2:g.22843394C>T GRCh38
NC_000014.8:g.23312603C>T , CM000676.1:g.23312603C>T GRCh37
NC_000014.7:g.22382443C>T NCBI36
NG_046989.1:g.11862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.826C>T MANE Select ENSP00000308208.6:p.Arg276Cys
ENST00000548162.2:c.826C>T ENSP00000506068.1:p.Arg276Cys
ENST00000680097.1:c.*141C>T ENSP00000506631.1:n.*141C>T
ENST00000680941.1:c.*224C>T ENSP00000506378.1:n.*224C>T
ENST00000311852.10:c.826C>T ENSP00000308208.6:p.Arg276Cys
ENST00000548162.1:n.1068C>T
NM_004995.3:c.826C>T NP_004986.1:p.Arg276Cys
NM_004995.4:c.826C>T MANE Select NP_004986.1:p.Arg276Cys
Search 100 bp 5'
Search 100 bp 3'