Canonical Allele Identifier: CA13974349
Gene: MMP14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1228559
ClinVar RCV Id: RCV001616190
dbSNP Id: rs743257
gnomAD v2: 14-23315331-T-C
gnomAD v3: 14-22846122-T-C
gnomAD v4: 14-22846122-T-C
MyVariant Identifiers: chr14:g.23315331T>C (hg19) chr14:g.22846122T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22846122T>C , CM000676.2:g.22846122T>C GRCh38
NC_000014.8:g.23315331T>C , CM000676.1:g.23315331T>C GRCh37
NC_000014.7:g.22385171T>C NCBI36
NG_046989.1:g.14590T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311852.11:c.*83T>C MANE Select ENSP00000308208.6:n.*83T>C
ENST00000548162.2:c.1417+756T>C ENSP00000506068.1:n.1417+756T>C
ENST00000680097.1:c.*1147T>C ENSP00000506631.1:n.*1147T>C
ENST00000680941.1:c.*1230T>C ENSP00000506378.1:n.*1230T>C
ENST00000311852.10:c.*83T>C ENSP00000308208.6:n.*83T>C
ENST00000548162.1:n.1659+756T>C
NM_004995.3:c.*83T>C NP_004986.1:n.*83T>C
NM_004995.4:c.*83T>C MANE Select NP_004986.1:n.*83T>C
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