Canonical Allele Identifier: CA7105227

Gene: MMP14

Linked Data

• dbSNP Id: rs376627532
• ExAC: 14:23312417 C / T
• gnomAD v2: 14-23312417-C-T
• gnomAD v3: 14-22843208-C-T
• gnomAD v4: 14-22843208-C-T
• MyVariant Identifiers: chr14:g.23312417C>T (hg19) ; chr14:g.22843208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843208C>T , CM000676.2:g.22843208C>T	GRCh38
NC_000014.8:g.23312417C>T , CM000676.1:g.23312417C>T	GRCh37
NC_000014.7:g.22382257C>T	NCBI36
NG_046989.1:g.11676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.689-49C>T MANE Select	ENSP00000308208.6:n.689-49C>T
ENST00000548162.2:c.689-49C>T	ENSP00000506068.1:n.689-49C>T
ENST00000680097.1:c.*4-49C>T	ENSP00000506631.1:n.*4-49C>T
ENST00000680941.1:c.*86+36C>T	ENSP00000506378.1:n.*86+36C>T
ENST00000311852.10:c.689-49C>T	ENSP00000308208.6:n.689-49C>T
ENST00000548162.1:n.931-49C>T
NM_004995.3:c.689-49C>T	NP_004986.1:n.689-49C>T
NM_004995.4:c.689-49C>T MANE Select	NP_004986.1:n.689-49C>T