Canonical Allele Identifier: CA612913380
Gene: MMP14 HGNC NCBI

Linked Data

dbSNP Id: rs1204953559
gnomAD v2: 14-23313552-G-C
gnomAD v3: 14-22844343-G-C
gnomAD v4: 14-22844343-G-C
MyVariant Identifiers: chr14:g.23313552G>C (hg19) chr14:g.22844343G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22844343G>C , CM000676.2:g.22844343G>C GRCh38
NC_000014.8:g.23313552G>C , CM000676.1:g.23313552G>C GRCh37
NC_000014.7:g.22383392G>C NCBI36
NG_046989.1:g.12811G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311852.11:c.1012-28G>C MANE Select ENSP00000308208.6:n.1012-28G>C
ENST00000548162.2:c.1012-28G>C ENSP00000506068.1:n.1012-28G>C
ENST00000680097.1:c.*327-28G>C ENSP00000506631.1:n.*327-28G>C
ENST00000680941.1:c.*410-28G>C ENSP00000506378.1:n.*410-28G>C
ENST00000311852.10:c.1012-28G>C ENSP00000308208.6:n.1012-28G>C
ENST00000548162.1:n.1254-28G>C
NM_004995.3:c.1012-28G>C NP_004986.1:n.1012-28G>C
NM_004995.4:c.1012-28G>C MANE Select NP_004986.1:n.1012-28G>C
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