Canonical Allele Identifier: CA10610296

Gene: AGT

Linked Data

• ClinVar Variation Id: 296065
• ClinVar RCV Id: RCV000361239
• dbSNP Id: rs886046077
• gnomAD v4: 1-230702628-G-T
• MyVariant Identifiers: chr1:g.230838374G>T (hg19) ; chr1:g.230702628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230702628G>T , CM000663.2:g.230702628G>T	GRCh38
NC_000001.10:g.230838374G>T , CM000663.1:g.230838374G>T	GRCh37
NC_000001.9:g.228904997G>T	NCBI36
NG_008836.1:g.16963C>A
NG_008836.2:g.16963C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.*513C>A MANE Select	ENSP00000355627.5:n.*513C>A
ENST00000679738.1:c.*513C>A	ENSP00000505063.1:n.*513C>A
ENST00000679802.1:c.*1403C>A	ENSP00000505184.1:n.*1403C>A
ENST00000679854.1:n.6249C>A
ENST00000680041.1:c.*513C>A	ENSP00000504866.1:n.*513C>A
ENST00000680783.1:c.829+7367C>A	ENSP00000506329.1:n.829+7367C>A
ENST00000681269.1:c.*513C>A	ENSP00000505985.1:n.*513C>A
ENST00000681347.1:n.4050C>A
ENST00000681514.1:c.*513C>A	ENSP00000505963.1:n.*513C>A
ENST00000681772.1:c.*1438C>A	ENSP00000505829.1:n.*1438C>A
ENST00000366667.4:c.*513C>A	ENSP00000355627.4:n.*513C>A
NM_000029.3:c.*513C>A	NP_000020.1:n.*513C>A
NM_000029.4:c.*513C>A	NP_000020.1:n.*513C>A
NM_001382817.3:c.*513C>A	NP_001369746.2:n.*513C>A
NM_001384479.1:c.*513C>A MANE Select	NP_001371408.1:n.*513C>A