Canonical Allele Identifier: CA1448043

Gene: AGT

Linked Data

• ClinVar Variation Id: 2226885
• ClinVar RCV Id: RCV002697367
• dbSNP Id: rs770652568
• ExAC: 1:230838972 C / T
• gnomAD v2: 1-230838972-C-T
• gnomAD v4: 1-230703226-C-T
• MyVariant Identifiers: chr1:g.230838972C>T (hg19) ; chr1:g.230703226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230703226C>T , CM000663.2:g.230703226C>T	GRCh38
NC_000001.10:g.230838972C>T , CM000663.1:g.230838972C>T	GRCh37
NC_000001.9:g.228905595C>T	NCBI36
NG_008836.1:g.16365G>A
NG_008836.2:g.16365G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.6:c.1346G>A MANE Select	ENSP00000355627.5:p.Arg449His
ENST00000679738.1:c.1346G>A	ENSP00000505063.1:p.Arg449His
ENST00000679802.1:c.*805G>A	ENSP00000505184.1:n.*805G>A
ENST00000679854.1:n.5651G>A
ENST00000679957.1:c.1337G>A	ENSP00000506646.1:p.Arg446His
ENST00000680041.1:c.1346G>A	ENSP00000504866.1:p.Arg449His
ENST00000680783.1:c.829+6769G>A	ENSP00000506329.1:n.829+6769G>A
ENST00000681269.1:c.1346G>A	ENSP00000505985.1:p.Arg449His
ENST00000681347.1:n.3452G>A
ENST00000681514.1:c.1346G>A	ENSP00000505963.1:p.Arg449His
ENST00000681772.1:c.*840G>A	ENSP00000505829.1:n.*840G>A
ENST00000366667.4:c.1373G>A	ENSP00000355627.4:p.Arg458His
NM_000029.3:c.1373G>A	NP_000020.1:p.Arg458His
NM_000029.4:c.1373G>A	NP_000020.1:p.Arg458His
NM_001382817.3:c.1346G>A	NP_001369746.2:p.Arg449His
NM_001384479.1:c.1346G>A MANE Select	NP_001371408.1:p.Arg449His