Canonical Allele Identifier: CA1448095

Gene: AGT

Linked Data

• ClinVar Variation Id: 2177676
• ClinVar RCV Id: RCV002595259
• dbSNP Id: rs768125504
• ExAC: 1:230839974 G / T
• gnomAD v2: 1-230839974-G-T
• gnomAD v3: 1-230704228-G-T
• gnomAD v4: 1-230704228-G-T
• MyVariant Identifiers: chr1:g.230839974G>T (hg19) ; chr1:g.230704228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230704228G>T , CM000663.2:g.230704228G>T	GRCh38
NC_000001.10:g.230839974G>T , CM000663.1:g.230839974G>T	GRCh37
NC_000001.9:g.228906597G>T	NCBI36
NG_008836.1:g.15363C>A
NG_008836.2:g.15363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.1207C>A MANE Select	ENSP00000355627.5:p.Gln403Lys
ENST00000679684.1:c.1207C>A	ENSP00000505981.1:p.Gln403Lys
ENST00000679738.1:c.1207C>A	ENSP00000505063.1:p.Gln403Lys
ENST00000679802.1:c.*666C>A	ENSP00000505184.1:n.*666C>A
ENST00000679854.1:n.5512C>A
ENST00000679957.1:c.1207C>A	ENSP00000506646.1:p.Gln403Lys
ENST00000680041.1:c.1207C>A	ENSP00000504866.1:p.Gln403Lys
ENST00000680783.1:c.829+5767C>A	ENSP00000506329.1:n.829+5767C>A
ENST00000681269.1:c.1207C>A	ENSP00000505985.1:p.Gln403Lys
ENST00000681347.1:n.3313C>A
ENST00000681514.1:c.1207C>A	ENSP00000505963.1:p.Gln403Lys
ENST00000681772.1:c.*701C>A	ENSP00000505829.1:n.*701C>A
ENST00000366667.4:c.1234C>A	ENSP00000355627.4:p.Gln412Lys
NM_000029.3:c.1234C>A	NP_000020.1:p.Gln412Lys
NM_000029.4:c.1234C>A	NP_000020.1:p.Gln412Lys
NM_001382817.3:c.1207C>A	NP_001369746.2:p.Gln403Lys
NM_001384479.1:c.1207C>A MANE Select	NP_001371408.1:p.Gln403Lys