Canonical Allele Identifier: CA1448389

Gene: AGT

Linked Data

• ClinVar Variation Id: 1415360
• ClinVar RCV Id: RCV001947642
• dbSNP Id: rs149973083
• ExAC: 1:230846505 G / C
• gnomAD v2: 1-230846505-G-C
• gnomAD v3: 1-230710759-G-C
• gnomAD v4: 1-230710759-G-C
• MyVariant Identifiers: chr1:g.230846505G>C (hg19) ; chr1:g.230710759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710759G>C , CM000663.2:g.230710759G>C	GRCh38
NC_000001.10:g.230846505G>C , CM000663.1:g.230846505G>C	GRCh37
NC_000001.9:g.228913128G>C	NCBI36
NG_008836.1:g.8832C>G
NG_008836.2:g.8832C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.65C>G MANE Select	ENSP00000355627.5:p.Ala22Gly
ENST00000679684.1:c.65C>G	ENSP00000505981.1:p.Ala22Gly
ENST00000679738.1:c.65C>G	ENSP00000505063.1:p.Ala22Gly
ENST00000679802.1:c.65C>G	ENSP00000505184.1:p.Ala22Gly
ENST00000679854.1:n.576C>G
ENST00000679957.1:c.65C>G	ENSP00000506646.1:p.Ala22Gly
ENST00000680041.1:c.65C>G	ENSP00000504866.1:p.Ala22Gly
ENST00000680783.1:c.65C>G	ENSP00000506329.1:p.Ala22Gly
ENST00000681269.1:c.65C>G	ENSP00000505985.1:p.Ala22Gly
ENST00000681347.1:n.576C>G
ENST00000681514.1:c.65C>G	ENSP00000505963.1:p.Ala22Gly
ENST00000681772.1:c.65C>G	ENSP00000505829.1:p.Ala22Gly
ENST00000366667.4:c.92C>G	ENSP00000355627.4:p.Ala31Gly
NM_000029.3:c.92C>G	NP_000020.1:p.Ala31Gly
NM_000029.4:c.92C>G	NP_000020.1:p.Ala31Gly
NM_001382817.3:c.65C>G	NP_001369746.2:p.Ala22Gly
NM_001384479.1:c.65C>G MANE Select	NP_001371408.1:p.Ala22Gly