Canonical Allele Identifier: CA704250925

Gene: MMP14

Linked Data

• dbSNP Id: rs1319088270
• gnomAD v3: 14-22843562-C-T
• gnomAD v4: 14-22843562-C-T
• MyVariant Identifiers: chr14:g.23312771C>T (hg19) ; chr14:g.22843562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22843562C>T , CM000676.2:g.22843562C>T	GRCh38
NC_000014.8:g.23312771C>T , CM000676.1:g.23312771C>T	GRCh37
NC_000014.7:g.22382611C>T	NCBI36
NG_046989.1:g.12030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311852.11:c.850+144C>T MANE Select	ENSP00000308208.6:n.850+144C>T
ENST00000548162.2:c.850+144C>T	ENSP00000506068.1:n.850+144C>T
ENST00000680097.1:c.*165+144C>T	ENSP00000506631.1:n.*165+144C>T
ENST00000680941.1:c.*248+144C>T	ENSP00000506378.1:n.*248+144C>T
ENST00000311852.10:c.850+144C>T	ENSP00000308208.6:n.850+144C>T
ENST00000548162.1:n.1092+144C>T
NM_004995.3:c.850+144C>T	NP_004986.1:n.850+144C>T
NM_004995.4:c.850+144C>T MANE Select	NP_004986.1:n.850+144C>T