Canonical Allele Identifier: CA99682526
Gene: AFP HGNC NCBI

Linked Data

dbSNP Id: rs149323976
gnomAD v2: 4-74321604-T-C
gnomAD v3: 4-73455887-T-C
gnomAD v4: 4-73455887-T-C
MyVariant Identifiers: chr4:g.74321604T>C (hg19) chr4:g.74321604_74321607delinsCAGG (hg19) chr4:g.73455887T>C (hg38) chr4:g.73455887_73455890delinsCAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73455887T>C , CM000666.2:g.73455887T>C GRCh38
NC_000004.11:g.74321604T>C , CM000666.1:g.74321604T>C GRCh37
NC_000004.10:g.74540468T>C NCBI36
NG_023028.1:g.24672T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395792.7:c.*267T>C MANE Select ENSP00000379138.2:n.*267T>C
ENST00000395792.6:c.*267T>C ENSP00000379138.2:n.*267T>C
NM_001134.3:c.*267T>C MANE Select NP_001125.1:n.*267T>C
NM_001354717.2:c.*267T>C NP_001341646.2:n.*267T>C
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