Canonical Allele Identifier: CA3314532
Gene: AGGF1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.77055574T>C
GRCh37 chr5:g.76351399T>C
Revel Score:
ENST00000312916 (MANE Select) 0.232
gnomAD v2:
5:76351399 T / C
gnomAD v3:
5:77055574 T / C
gnomAD v4:
chr5-77055574-T-C
Joint Max Group AF 0.00010944 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00011354 (NFE)
ClinVar Allele:
2217902
ClinVar RCV:
RCV004086362
ClinVar Variation:
2223273
dbSNP:
761505257
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.77055574T>C , CM000667.2:g.77055574T>C GRCh38
NC_000005.9:g.76351399T>C , CM000667.1:g.76351399T>C GRCh37
NC_000005.8:g.76387155T>C NCBI36
NG_027822.1:g.30190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312916.12:c.1694T>C MANE Select ENSP00000316109.7:p.Ile565Thr
ENST00000646704.1:c.1559T>C ENSP00000495089.1:p.Ile520Thr
ENST00000312916.11:c.1694T>C ENSP00000316109.7:p.Ile565Thr
NM_018046.4:c.1694T>C NP_060516.2:p.Ile565Thr
NM_018046.5:c.1694T>C MANE Select NP_060516.2:p.Ile565Thr
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