Canonical Allele Identifier: CA257746197

Gene: MMP14

Linked Data

• dbSNP Id: rs188899315
• gnomAD v3: 14-22843189-T-C
• gnomAD v4: 14-22843189-T-C
• MyVariant Identifiers: chr14:g.23312398T>C (hg19) ; chr14:g.22843189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843189T>C , CM000676.2:g.22843189T>C	GRCh38
NC_000014.8:g.23312398T>C , CM000676.1:g.23312398T>C	GRCh37
NC_000014.7:g.22382238T>C	NCBI36
NG_046989.1:g.11657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.689-68T>C MANE Select	ENSP00000308208.6:n.689-68T>C
ENST00000548162.2:c.689-68T>C	ENSP00000506068.1:n.689-68T>C
ENST00000680097.1:c.*4-68T>C	ENSP00000506631.1:n.*4-68T>C
ENST00000680941.1:c.*86+17T>C	ENSP00000506378.1:n.*86+17T>C
ENST00000311852.10:c.689-68T>C	ENSP00000308208.6:n.689-68T>C
ENST00000548162.1:n.931-68T>C
NM_004995.3:c.689-68T>C	NP_004986.1:n.689-68T>C
NM_004995.4:c.689-68T>C MANE Select	NP_004986.1:n.689-68T>C