Canonical Allele Identifier: CA1448044

Gene: AGT

Linked Data

• ClinVar Variation Id: 1125579
• ClinVar RCV Id: RCV001457333
• dbSNP Id: rs375261929
• ExAC: 1:230838973 G / A
• gnomAD v2: 1-230838973-G-A
• gnomAD v3: 1-230703227-G-A
• gnomAD v4: 1-230703227-G-A
• COSMIC: COSM3977181
• MyVariant Identifiers: chr1:g.230838973G>A (hg19) ; chr1:g.230703227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230703227G>A , CM000663.2:g.230703227G>A	GRCh38
NC_000001.10:g.230838973G>A , CM000663.1:g.230838973G>A	GRCh37
NC_000001.9:g.228905596G>A	NCBI36
NG_008836.1:g.16364C>T
NG_008836.2:g.16364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.1345C>T MANE Select	ENSP00000355627.5:p.Arg449Cys
ENST00000679738.1:c.1345C>T	ENSP00000505063.1:p.Arg449Cys
ENST00000679802.1:c.*804C>T	ENSP00000505184.1:n.*804C>T
ENST00000679854.1:n.5650C>T
ENST00000679957.1:c.1336C>T	ENSP00000506646.1:p.Arg446Cys
ENST00000680041.1:c.1345C>T	ENSP00000504866.1:p.Arg449Cys
ENST00000680783.1:c.829+6768C>T	ENSP00000506329.1:n.829+6768C>T
ENST00000681269.1:c.1345C>T	ENSP00000505985.1:p.Arg449Cys
ENST00000681347.1:n.3451C>T
ENST00000681514.1:c.1345C>T	ENSP00000505963.1:p.Arg449Cys
ENST00000681772.1:c.*839C>T	ENSP00000505829.1:n.*839C>T
ENST00000366667.4:c.1372C>T	ENSP00000355627.4:p.Arg458Cys
NM_000029.3:c.1372C>T	NP_000020.1:p.Arg458Cys
NM_000029.4:c.1372C>T	NP_000020.1:p.Arg458Cys
NM_001382817.3:c.1345C>T	NP_001369746.2:p.Arg449Cys
NM_001384479.1:c.1345C>T MANE Select	NP_001371408.1:p.Arg449Cys