Canonical Allele Identifier: CA1448176

Gene: AGT

Linked Data

• dbSNP Id: rs759033959
• ExAC: 1:230841848 A / G
• gnomAD v2: 1-230841848-A-G
• gnomAD v4: 1-230706102-A-G
• MyVariant Identifiers: chr1:g.230841848A>G (hg19) ; chr1:g.230706102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230706102A>G , CM000663.2:g.230706102A>G	GRCh38
NC_000001.10:g.230841848A>G , CM000663.1:g.230841848A>G	GRCh37
NC_000001.9:g.228908471A>G	NCBI36
NG_008836.1:g.13489T>C
NG_008836.2:g.13489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.928T>C MANE Select	ENSP00000355627.5:p.Phe310Leu
ENST00000679684.1:c.928T>C	ENSP00000505981.1:p.Phe310Leu
ENST00000679738.1:c.928T>C	ENSP00000505063.1:p.Phe310Leu
ENST00000679802.1:c.*387T>C	ENSP00000505184.1:n.*387T>C
ENST00000679854.1:n.5233T>C
ENST00000679957.1:c.928T>C	ENSP00000506646.1:p.Phe310Leu
ENST00000680041.1:c.928T>C	ENSP00000504866.1:p.Phe310Leu
ENST00000680783.1:c.829+3893T>C	ENSP00000506329.1:n.829+3893T>C
ENST00000681269.1:c.928T>C	ENSP00000505985.1:p.Phe310Leu
ENST00000681347.1:n.1439T>C
ENST00000681514.1:c.928T>C	ENSP00000505963.1:p.Phe310Leu
ENST00000681772.1:c.928T>C	ENSP00000505829.1:p.Phe310Leu
ENST00000366667.4:c.955T>C	ENSP00000355627.4:p.Phe319Leu
NM_000029.3:c.955T>C	NP_000020.1:p.Phe319Leu
NM_000029.4:c.955T>C	NP_000020.1:p.Phe319Leu
NM_001382817.3:c.928T>C	NP_001369746.2:p.Phe310Leu
NM_001384479.1:c.928T>C MANE Select	NP_001371408.1:p.Phe310Leu