Canonical Allele Identifier: CA99671577

Gene: AFP

Linked Data

• dbSNP Id: rs151308004
• gnomAD v3: 4-73442343-C-G
• gnomAD v4: 4-73442343-C-G
• MyVariant Identifiers: chr4:g.74308060C>G (hg19) ; chr4:g.73442343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73442343C>G , CM000666.2:g.73442343C>G	GRCh38
NC_000004.11:g.74308060C>G , CM000666.1:g.74308060C>G	GRCh37
NC_000004.10:g.74526924C>G	NCBI36
NG_023028.1:g.11128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395792.7:c.530C>G MANE Select	ENSP00000379138.2:p.Thr177Arg
ENST00000226359.2:c.530C>G	ENSP00000226359.2:p.Thr177Arg
ENST00000395792.6:c.530C>G	ENSP00000379138.2:p.Thr177Arg
NM_001134.2:c.530C>G	NP_001125.1:p.Thr177Arg
XM_011531704.1:c.527C>G	XP_011530006.1:p.Thr176Arg
NM_001354717.1:c.56C>G	NP_001341646.1:p.Thr19Arg
NM_001134.3:c.530C>G MANE Select	NP_001125.1:p.Thr177Arg
NM_001354717.2:c.56C>G	NP_001341646.2:p.Thr19Arg