Canonical Allele Identifier: CA257746782

Gene: MMP14

Linked Data

• dbSNP Id: rs762243260
• gnomAD v2: 14-23312784-G-A
• gnomAD v3: 14-22843575-G-A
• gnomAD v4: 14-22843575-G-A
• MyVariant Identifiers: chr14:g.23312784G>A (hg19) ; chr14:g.22843575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843575G>A , CM000676.2:g.22843575G>A	GRCh38
NC_000014.8:g.23312784G>A , CM000676.1:g.23312784G>A	GRCh37
NC_000014.7:g.22382624G>A	NCBI36
NG_046989.1:g.12043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.851-135G>A MANE Select	ENSP00000308208.6:n.851-135G>A
ENST00000548162.2:c.851-135G>A	ENSP00000506068.1:n.851-135G>A
ENST00000680097.1:c.*166-135G>A	ENSP00000506631.1:n.*166-135G>A
ENST00000680941.1:c.*249-135G>A	ENSP00000506378.1:n.*249-135G>A
ENST00000311852.10:c.851-135G>A	ENSP00000308208.6:n.851-135G>A
ENST00000548162.1:n.1093-135G>A
NM_004995.3:c.851-135G>A	NP_004986.1:n.851-135G>A
NM_004995.4:c.851-135G>A MANE Select	NP_004986.1:n.851-135G>A