Canonical Allele Identifier: CA12519323
Gene: MET HGNC NCBI
COMETT HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.116672385C>G
GRCh37 chr7:g.116312439C>G
gnomAD v2:
7:116312439 C / G
gnomAD v3:
7:116672385 C / G
gnomAD v4:
chr7-116672385-C-G
Joint Max Group AF 0.62134778 (EAS)
Genomes Max Group AF 0.63372433 (EAS)
Exomes Max Group AF 0.6148478 (EAS)
ClinVar Allele:
1155546
ClinVar RCV:
RCV001515284
RCV001673089
ClinVar Variation:
1166750
dbSNP:
1858830
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116672385C>G , CM000669.2:g.116672385C>G GRCh38
NC_000007.13:g.116312439C>G , CM000669.1:g.116312439C>G GRCh37
NC_000007.12:g.116099675C>G NCBI36
NG_008996.1:g.4981C>G , LRG_662:g.4981C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000422097.2:c.-207C>G (MET) ENSP00000398776.2:n.-207C>G
ENST00000436117.3:c.-207C>G (MET) ENSP00000410980.2:n.-207C>G
ENST00000318493.11:c.-207C>G (MET) ENSP00000317272.6:n.-207C>G
ENST00000397752.8:c.-207C>G (MET) MANE Select ENSP00000380860.3:n.-207C>G
NM_001324402.1:c.-283C>G (MET) NP_001311331.1:n.-283C>G
NM_001127500.3:c.-207C>G (MET) NP_001120972.1:n.-207C>G
NM_000245.4:c.-207C>G (MET) MANE Select NP_000236.2:n.-207C>G
NM_001324401.2:c.-207C>G (MET) NP_001311330.1:n.-207C>G
NM_001324402.2:c.-283C>G (MET) NP_001311331.1:n.-283C>G
NR_165032.1:n.88-8344G>C (COMETT)
NR_165033.1:n.88-8344G>C (COMETT)
NM_001324401.3:c.-207C>G (MET) NP_001311330.1:n.-207C>G
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