Canonical Allele Identifier: CA14323035
Gene: AFG3L1P HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.90000528A>C
GRCh37 chr16:g.90066936A>C
gnomAD v2:
16:90066936 A / C
gnomAD v3:
16:90000528 A / C
gnomAD v4:
chr16-90000528-A-C
Joint Max Group AF 0.74106008 (AMR)
Genomes Max Group AF 0.74124179 (AMR)
Exomes Max Group AF 0.81172833 (EAS)
dbSNP:
4785763
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.90000528A>C , CM000678.2:g.90000528A>C GRCh38
NC_000016.9:g.90066936A>C , CM000678.1:g.90066936A>C GRCh37
NC_000016.8:g.88594437A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000355531.7:n.1304A>C
ENST00000388970.7:n.1441A>C
ENST00000454997.1:n.1694A>C
ENST00000557444.5:n.2307A>C
NR_003228.1:n.1682A>C
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