Canonical Allele Identifier: CA38866435

Gene: AGT

Linked Data

• ClinVar Variation Id: 2840043
• ClinVar RCV Id: RCV003716169
• dbSNP Id: rs113943893
• gnomAD v4: 1-230704310-C-T
• MyVariant Identifiers: chr1:g.230840056C>T (hg19) ; chr1:g.230704310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230704310C>T , CM000663.2:g.230704310C>T	GRCh38
NC_000001.10:g.230840056C>T , CM000663.1:g.230840056C>T	GRCh37
NC_000001.9:g.228906679C>T	NCBI36
NG_008836.1:g.15281G>A
NG_008836.2:g.15281G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.6:c.1125G>A MANE Select	ENSP00000355627.5:p.Leu375=
ENST00000679684.1:c.1125G>A	ENSP00000505981.1:p.Leu375=
ENST00000679738.1:c.1125G>A	ENSP00000505063.1:p.Leu375=
ENST00000679802.1:c.*584G>A	ENSP00000505184.1:n.*584G>A
ENST00000679854.1:n.5430G>A
ENST00000679957.1:c.1125G>A	ENSP00000506646.1:p.Leu375=
ENST00000680041.1:c.1125G>A	ENSP00000504866.1:p.Leu375=
ENST00000680783.1:c.829+5685G>A	ENSP00000506329.1:n.829+5685G>A
ENST00000681269.1:c.1125G>A	ENSP00000505985.1:p.Leu375=
ENST00000681347.1:n.3231G>A
ENST00000681514.1:c.1125G>A	ENSP00000505963.1:p.Leu375=
ENST00000681772.1:c.*619G>A	ENSP00000505829.1:n.*619G>A
ENST00000366667.4:c.1152G>A	ENSP00000355627.4:p.Leu384=
NM_000029.3:c.1152G>A	NP_000020.1:p.Leu384=
NM_000029.4:c.1152G>A	NP_000020.1:p.Leu384=
NM_001382817.3:c.1125G>A	NP_001369746.2:p.Leu375=
NM_001384479.1:c.1125G>A MANE Select	NP_001371408.1:p.Leu375=