Canonical Allele Identifier: CA13986764
Gene: APEX1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.20455138A>C
GRCh37 chr14:g.20923297A>C
gnomAD v2:
14:20923297 A / C
gnomAD v3:
14:20455138 A / C
gnomAD v4:
chr14-20455138-A-C
Joint Max Group AF 0.12247237 (AFR)
Genomes Max Group AF 0.12362929 (AFR)
Exomes Max Group AF 0.10887008 (AFR)
ClinVar RCV:
RCV001679353
ClinVar Variation:
1275114
dbSNP:
3136814
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20455138A>C , CM000676.2:g.20455138A>C GRCh38
NC_000014.8:g.20923297A>C , CM000676.1:g.20923297A>C GRCh37
NC_000014.7:g.19993137A>C NCBI36
NG_008718.1:g.5008A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001244249.1:c.-320A>C NP_001231178.1:n.-320A>C
NM_001641.3:c.-325A>C NP_001632.2:n.-325A>C
NM_080648.2:c.-259A>C NP_542379.1:n.-259A>C
NM_080649.2:c.-269A>C NP_542380.1:n.-269A>C
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