Canonical Allele Identifier: CA38871874

Gene: AGT

Linked Data

• dbSNP Id: rs11557885
• gnomAD v2: 1-230846195-G-A
• gnomAD v3: 1-230710449-G-A
• gnomAD v4: 1-230710449-G-A
• COSMIC: COSM4894489
• MyVariant Identifiers: chr1:g.230846195G>A (hg19) ; chr1:g.230710449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710449G>A , CM000663.2:g.230710449G>A	GRCh38
NC_000001.10:g.230846195G>A , CM000663.1:g.230846195G>A	GRCh37
NC_000001.9:g.228912818G>A	NCBI36
NG_008836.1:g.9142C>T
NG_008836.2:g.9142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.375C>T MANE Select	ENSP00000355627.5:p.Leu125=
ENST00000679684.1:c.375C>T	ENSP00000505981.1:p.Leu125=
ENST00000679738.1:c.375C>T	ENSP00000505063.1:p.Leu125=
ENST00000679802.1:c.375C>T	ENSP00000505184.1:p.Leu125=
ENST00000679854.1:n.886C>T
ENST00000679957.1:c.375C>T	ENSP00000506646.1:p.Leu125=
ENST00000680041.1:c.375C>T	ENSP00000504866.1:p.Leu125=
ENST00000680783.1:c.375C>T	ENSP00000506329.1:p.Leu125=
ENST00000681269.1:c.375C>T	ENSP00000505985.1:p.Leu125=
ENST00000681347.1:n.886C>T
ENST00000681514.1:c.375C>T	ENSP00000505963.1:p.Leu125=
ENST00000681772.1:c.375C>T	ENSP00000505829.1:p.Leu125=
ENST00000366667.4:c.402C>T	ENSP00000355627.4:p.Leu134=
NM_000029.3:c.402C>T	NP_000020.1:p.Leu134=
NM_000029.4:c.402C>T	NP_000020.1:p.Leu134=
NM_001382817.3:c.375C>T	NP_001369746.2:p.Leu125=
NM_001384479.1:c.375C>T MANE Select	NP_001371408.1:p.Leu125=