Canonical Allele Identifier: CA11690914
Gene: AFP HGNC NCBI
dbSNP:
10020432
gnomAD v2:
4:74321600 A / G
gnomAD v3:
4:73455883 A / G
gnomAD v4:
chr4-73455883-A-G
Joint Max Group AF 0.65372948 (EAS)
Genomes Max Group AF 0.64057113 (EAS)
Exomes Max Group AF 0.65345868 (EAS)
MyVariant.info:
GRCh38 chr4:g.73455883A>G
GRCh37 chr4:g.74321600A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73455883A>G , CM000666.2:g.73455883A>G GRCh38
NC_000004.11:g.74321600A>G , CM000666.1:g.74321600A>G GRCh37
NC_000004.10:g.74540464A>G NCBI36
NG_023028.1:g.24668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395792.7:c.*263A>G MANE Select ENSP00000379138.2:n.*263A>G
ENST00000395792.6:c.*263A>G ENSP00000379138.2:n.*263A>G
NM_001134.3:c.*263A>G MANE Select NP_001125.1:n.*263A>G
NM_001354717.2:c.*263A>G NP_001341646.2:n.*263A>G
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