Canonical Allele Identifier: CA257746333

Gene: MMP14

Linked Data

• dbSNP Id: rs894051901
• gnomAD v2: 14-23312503-C-T
• gnomAD v4: 14-22843294-C-T
• MyVariant Identifiers: chr14:g.23312503C>T (hg19) ; chr14:g.22843294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843294C>T , CM000676.2:g.22843294C>T	GRCh38
NC_000014.8:g.23312503C>T , CM000676.1:g.23312503C>T	GRCh37
NC_000014.7:g.22382343C>T	NCBI36
NG_046989.1:g.11762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.726C>T MANE Select	ENSP00000308208.6:p.Gly242=
ENST00000548162.2:c.726C>T	ENSP00000506068.1:p.Gly242=
ENST00000680097.1:c.*41C>T	ENSP00000506631.1:n.*41C>T
ENST00000680941.1:c.*124C>T	ENSP00000506378.1:n.*124C>T
ENST00000311852.10:c.726C>T	ENSP00000308208.6:p.Gly242=
ENST00000548162.1:n.968C>T
NM_004995.3:c.726C>T	NP_004986.1:p.Gly242=
NM_004995.4:c.726C>T MANE Select	NP_004986.1:p.Gly242=