Canonical Allele Identifier: CA257746136
Gene: MMP14 HGNC NCBI

Linked Data

ClinVar Variation Id: 1247052
ClinVar RCV Id: RCV001656398
dbSNP Id: rs17123205
gnomAD v2: 14-23312295-A-G
gnomAD v3: 14-22843086-A-G
gnomAD v4: 14-22843086-A-G
MyVariant Identifiers: chr14:g.23312295A>G (hg19) chr14:g.22843086A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.22843086A>G , CM000676.2:g.22843086A>G GRCh38
NC_000014.8:g.23312295A>G , CM000676.1:g.23312295A>G GRCh37
NC_000014.7:g.22382135A>G NCBI36
NG_046989.1:g.11554A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311852.11:c.689-171A>G MANE Select ENSP00000308208.6:n.689-171A>G
ENST00000548162.2:c.689-171A>G ENSP00000506068.1:n.689-171A>G
ENST00000680097.1:c.*4-171A>G ENSP00000506631.1:n.*4-171A>G
ENST00000680941.1:c.753A>G ENSP00000506378.1:p.Ter251Trp
ENST00000311852.10:c.689-171A>G ENSP00000308208.6:n.689-171A>G
ENST00000548162.1:n.931-171A>G
NM_004995.3:c.689-171A>G NP_004986.1:n.689-171A>G
NM_004995.4:c.689-171A>G MANE Select NP_004986.1:n.689-171A>G
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