Canonical Allele Identifier: CA345204596

Gene: AGT

Linked Data

• dbSNP Id: rs1213909298
• gnomAD v2: 1-230841916-T-G
• gnomAD v4: 1-230706170-T-G
• MyVariant Identifiers: chr1:g.230841916T>G (hg19) ; chr1:g.230706170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230706170T>G , CM000663.2:g.230706170T>G	GRCh38
NC_000001.10:g.230841916T>G , CM000663.1:g.230841916T>G	GRCh37
NC_000001.9:g.228908539T>G	NCBI36
NG_008836.1:g.13421A>C
NG_008836.2:g.13421A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.860A>C MANE Select	ENSP00000355627.5:p.Glu287Ala
ENST00000679684.1:c.860A>C	ENSP00000505981.1:p.Glu287Ala
ENST00000679738.1:c.860A>C	ENSP00000505063.1:p.Glu287Ala
ENST00000679802.1:c.*319A>C	ENSP00000505184.1:n.*319A>C
ENST00000679854.1:n.5165A>C
ENST00000679957.1:c.860A>C	ENSP00000506646.1:p.Glu287Ala
ENST00000680041.1:c.860A>C	ENSP00000504866.1:p.Glu287Ala
ENST00000680783.1:c.829+3825A>C	ENSP00000506329.1:n.829+3825A>C
ENST00000681269.1:c.860A>C	ENSP00000505985.1:p.Glu287Ala
ENST00000681347.1:n.1371A>C
ENST00000681514.1:c.860A>C	ENSP00000505963.1:p.Glu287Ala
ENST00000681772.1:c.860A>C	ENSP00000505829.1:p.Glu287Ala
ENST00000366667.4:c.887A>C	ENSP00000355627.4:p.Glu296Ala
NM_000029.3:c.887A>C	NP_000020.1:p.Glu296Ala
NM_000029.4:c.887A>C	NP_000020.1:p.Glu296Ala
NM_001382817.3:c.860A>C	NP_001369746.2:p.Glu287Ala
NM_001384479.1:c.860A>C MANE Select	NP_001371408.1:p.Glu287Ala