Canonical Allele Identifier: CA10609282
Gene: AGT HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.230714337C>T
GRCh37 chr1:g.230850083C>T
gnomAD v2:
1:230850083 C / T
gnomAD v3:
1:230714337 C / T
gnomAD v4:
chr1-230714337-C-T
Joint Max Group AF 0.26176429 (AFR)
Genomes Max Group AF 0.26175287 (AFR)
Exomes Max Group AF 0.10543941 (NFE)
ClinVar RCV:
RCV000343947
RCV001723880
ClinVar Variation:
296097
dbSNP:
5049
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230714337C>T , CM000663.2:g.230714337C>T GRCh38
NC_000001.10:g.230850083C>T , CM000663.1:g.230850083C>T GRCh37
NC_000001.9:g.228916706C>T NCBI36
NG_008836.1:g.5254G>A
NG_008836.2:g.5254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679684.1:c.-282G>A ENSP00000505981.1:n.-282G>A
ENST00000679738.1:c.-282G>A ENSP00000505063.1:n.-282G>A
ENST00000679802.1:c.-282G>A ENSP00000505184.1:n.-282G>A
ENST00000679854.1:n.230G>A
ENST00000679957.1:c.-282G>A ENSP00000506646.1:n.-282G>A
ENST00000680783.1:c.-282G>A ENSP00000506329.1:n.-282G>A
ENST00000681269.1:c.-30-3484G>A ENSP00000505985.1:n.-30-3484G>A
ENST00000681347.1:n.230G>A
ENST00000681772.1:c.-282G>A ENSP00000505829.1:n.-282G>A
NM_000029.3:c.-255G>A NP_000020.1:n.-255G>A
NM_001382817.3:c.-30-3484G>A NP_001369746.2:n.-30-3484G>A
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