Canonical Allele Identifier: CA2960050
Gene: AFP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.73445127A>G
GRCh37 chr4:g.74310844A>G
gnomAD v2:
4:74310844 A / G
gnomAD v3:
4:73445127 A / G
gnomAD v4:
chr4-73445127-A-G
Joint Max Group AF 0.66055735 (EAS)
Genomes Max Group AF 0.64879458 (EAS)
Exomes Max Group AF 0.66009512 (EAS)
dbSNP:
2298839
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73445127A>G , CM000666.2:g.73445127A>G GRCh38
NC_000004.11:g.74310844A>G , CM000666.1:g.74310844A>G GRCh37
NC_000004.10:g.74529708A>G NCBI36
NG_023028.1:g.13912A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395792.7:c.843+5A>G MANE Select ENSP00000379138.2:n.843+5A>G
ENST00000226359.2:c.843+5A>G ENSP00000226359.2:n.843+5A>G
ENST00000395792.6:c.843+5A>G ENSP00000379138.2:n.843+5A>G
NM_001134.2:c.843+5A>G NP_001125.1:n.843+5A>G
XM_011531704.1:c.840+5A>G XP_011530006.1:n.840+5A>G
NM_001354717.1:c.369+5A>G NP_001341646.1:n.369+5A>G
NM_001134.3:c.843+5A>G MANE Select NP_001125.1:n.843+5A>G
NM_001354717.2:c.369+5A>G NP_001341646.2:n.369+5A>G
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