Canonical Allele Identifier: CA1448026

Gene: AGT

Linked Data

• ClinVar Variation Id: 2416480
• ClinVar RCV Id: RCV003107229
• dbSNP Id: rs766166368
• ExAC: 1:230838913 C / T
• gnomAD v2: 1-230838913-C-T
• gnomAD v3: 1-230703167-C-T
• gnomAD v4: 1-230703167-C-T
• COSMIC: COSM1997928
• MyVariant Identifiers: chr1:g.230838913C>T (hg19) ; chr1:g.230703167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230703167C>T , CM000663.2:g.230703167C>T	GRCh38
NC_000001.10:g.230838913C>T , CM000663.1:g.230838913C>T	GRCh37
NC_000001.9:g.228905536C>T	NCBI36
NG_008836.1:g.16424G>A
NG_008836.2:g.16424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.1405G>A MANE Select	ENSP00000355627.5:p.Val469Met
ENST00000679738.1:c.1405G>A	ENSP00000505063.1:p.Val469Met
ENST00000679802.1:c.*864G>A	ENSP00000505184.1:n.*864G>A
ENST00000679854.1:n.5710G>A
ENST00000679957.1:c.1396G>A	ENSP00000506646.1:p.Val466Met
ENST00000680041.1:c.1405G>A	ENSP00000504866.1:p.Val469Met
ENST00000680783.1:c.829+6828G>A	ENSP00000506329.1:n.829+6828G>A
ENST00000681269.1:c.1405G>A	ENSP00000505985.1:p.Val469Met
ENST00000681347.1:n.3511G>A
ENST00000681514.1:c.1405G>A	ENSP00000505963.1:p.Val469Met
ENST00000681772.1:c.*899G>A	ENSP00000505829.1:n.*899G>A
ENST00000366667.4:c.1432G>A	ENSP00000355627.4:p.Val478Met
NM_000029.3:c.1432G>A	NP_000020.1:p.Val478Met
NM_000029.4:c.1432G>A	NP_000020.1:p.Val478Met
NM_001382817.3:c.1405G>A	NP_001369746.2:p.Val469Met
NM_001384479.1:c.1405G>A MANE Select	NP_001371408.1:p.Val469Met