Canonical Allele Identifier: CA485591345
Gene: MMP14 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23312617G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843408G>A , CM000676.2:g.22843408G>A GRCh38
NC_000014.8:g.23312617G>A , CM000676.1:g.23312617G>A GRCh37
NC_000014.7:g.22382457G>A NCBI36
NG_046989.1:g.11876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.840G>A MANE Select ENSP00000308208.6:p.Gln280=
ENST00000548162.2:c.840G>A ENSP00000506068.1:p.Gln280=
ENST00000680097.1:c.*155G>A ENSP00000506631.1:n.*155G>A
ENST00000680941.1:c.*238G>A ENSP00000506378.1:n.*238G>A
ENST00000311852.10:c.840G>A ENSP00000308208.6:p.Gln280=
ENST00000548162.1:n.1082G>A
NM_004995.3:c.840G>A NP_004986.1:p.Gln280=
NM_004995.4:c.840G>A MANE Select NP_004986.1:p.Gln280=