Canonical Allele Identifier: CA10792841

Gene: AGT

Linked Data

• ClinVar Variation Id: 1288046
• ClinVar RCV Id: RCV001707021
• dbSNP Id: rs2478523
• gnomAD v2: 1-230841509-A-G
• gnomAD v3: 1-230705763-A-G
• gnomAD v4: 1-230705763-A-G
• MyVariant Identifiers: chr1:g.230841509A>G (hg19) ; chr1:g.230705763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230705763A>G , CM000663.2:g.230705763A>G	GRCh38
NC_000001.10:g.230841509A>G , CM000663.1:g.230841509A>G	GRCh37
NC_000001.9:g.228908132A>G	NCBI36
NG_008836.1:g.13828T>C
NG_008836.2:g.13828T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.6:c.1097+170T>C MANE Select	ENSP00000355627.5:n.1097+170T>C
ENST00000679684.1:c.1097+170T>C	ENSP00000505981.1:n.1097+170T>C
ENST00000679738.1:c.1097+170T>C	ENSP00000505063.1:n.1097+170T>C
ENST00000679802.1:c.*556+170T>C	ENSP00000505184.1:n.*556+170T>C
ENST00000679854.1:n.5402+170T>C
ENST00000679957.1:c.1097+170T>C	ENSP00000506646.1:n.1097+170T>C
ENST00000680041.1:c.1097+170T>C	ENSP00000504866.1:n.1097+170T>C
ENST00000680783.1:c.829+4232T>C	ENSP00000506329.1:n.829+4232T>C
ENST00000681269.1:c.1097+170T>C	ENSP00000505985.1:n.1097+170T>C
ENST00000681347.1:n.1778T>C
ENST00000681514.1:c.1097+170T>C	ENSP00000505963.1:n.1097+170T>C
ENST00000681772.1:c.*166T>C	ENSP00000505829.1:n.*166T>C
ENST00000366667.4:c.1124+170T>C	ENSP00000355627.4:n.1124+170T>C
NM_000029.3:c.1124+170T>C	NP_000020.1:n.1124+170T>C
NM_000029.4:c.1124+170T>C	NP_000020.1:n.1124+170T>C
NM_001382817.3:c.1097+170T>C	NP_001369746.2:n.1097+170T>C
NM_001384479.1:c.1097+170T>C MANE Select	NP_001371408.1:n.1097+170T>C