Canonical Allele Identifier: CA1448409

Gene: AGT

Linked Data

• ClinVar Variation Id: 2055818
• ClinVar RCV Id: RCV002947343
• dbSNP Id: rs61762541
• ExAC: 1:230846586 C / G
• gnomAD v2: 1-230846586-C-G
• gnomAD v3: 1-230710840-C-G
• gnomAD v4: 1-230710840-C-G
• MyVariant Identifiers: chr1:g.230846586C>G (hg19) ; chr1:g.230710840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710840C>G , CM000663.2:g.230710840C>G	GRCh38
NC_000001.10:g.230846586C>G , CM000663.1:g.230846586C>G	GRCh37
NC_000001.9:g.228913209C>G	NCBI36
NG_008836.1:g.8751G>C
NG_008836.2:g.8751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366667.6:c.-17G>C MANE Select	ENSP00000355627.5:n.-17G>C
ENST00000679684.1:c.-17G>C	ENSP00000505981.1:n.-17G>C
ENST00000679738.1:c.-17G>C	ENSP00000505063.1:n.-17G>C
ENST00000679802.1:c.-17G>C	ENSP00000505184.1:n.-17G>C
ENST00000679854.1:n.495G>C
ENST00000679957.1:c.-17G>C	ENSP00000506646.1:n.-17G>C
ENST00000680041.1:c.-17G>C	ENSP00000504866.1:n.-17G>C
ENST00000680783.1:c.-17G>C	ENSP00000506329.1:n.-17G>C
ENST00000681269.1:c.-17G>C	ENSP00000505985.1:n.-17G>C
ENST00000681347.1:n.495G>C
ENST00000681514.1:c.-17G>C	ENSP00000505963.1:n.-17G>C
ENST00000681772.1:c.-17G>C	ENSP00000505829.1:n.-17G>C
ENST00000366667.4:c.11G>C	ENSP00000355627.4:p.Arg4Pro
NM_000029.3:c.11G>C	NP_000020.1:p.Arg4Pro
NM_000029.4:c.11G>C	NP_000020.1:p.Arg4Pro
NM_001382817.3:c.-17G>C	NP_001369746.2:n.-17G>C
NM_001384479.1:c.-17G>C MANE Select	NP_001371408.1:n.-17G>C