Canonical Allele Identifier: CA257746713

Gene: MMP14

Linked Data

• dbSNP Id: rs138404613
• gnomAD v2: 14-23312760-A-T
• gnomAD v3: 14-22843551-A-T
• gnomAD v4: 14-22843551-A-T
• MyVariant Identifiers: chr14:g.23312760A>T (hg19) ; chr14:g.22843551A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843551A>T , CM000676.2:g.22843551A>T	GRCh38
NC_000014.8:g.23312760A>T , CM000676.1:g.23312760A>T	GRCh37
NC_000014.7:g.22382600A>T	NCBI36
NG_046989.1:g.12019A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.850+133A>T MANE Select	ENSP00000308208.6:n.850+133A>T
ENST00000548162.2:c.850+133A>T	ENSP00000506068.1:n.850+133A>T
ENST00000680097.1:c.*165+133A>T	ENSP00000506631.1:n.*165+133A>T
ENST00000680941.1:c.*248+133A>T	ENSP00000506378.1:n.*248+133A>T
ENST00000311852.10:c.850+133A>T	ENSP00000308208.6:n.850+133A>T
ENST00000548162.1:n.1092+133A>T
NM_004995.3:c.850+133A>T	NP_004986.1:n.850+133A>T
NM_004995.4:c.850+133A>T MANE Select	NP_004986.1:n.850+133A>T