Canonical Allele Identifier: CA2657431

Gene: AGTR1

Linked Data

• ClinVar Variation Id: 1910330
• ClinVar RCV Id: RCV002593187
• dbSNP Id: rs377193123
• ExAC: 3:148459841 G / A
• gnomAD v2: 3-148459841-G-A
• gnomAD v3: 3-148742054-G-A
• gnomAD v4: 3-148742054-G-A
• COSMIC: COSM3002357
• MyVariant Identifiers: chr3:g.148459841G>A (hg19) ; chr3:g.148742054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148742054G>A , CM000665.2:g.148742054G>A	GRCh38
NC_000003.11:g.148459841G>A , CM000665.1:g.148459841G>A	GRCh37
NC_000003.10:g.149942531G>A	NCBI36
NG_008468.1:g.49184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349243.8:c.1019G>A MANE Select	ENSP00000273430.3:p.Arg340His
ENST00000402260.2:c.1019G>A	ENSP00000385641.3:p.Arg340His
ENST00000418473.7:c.1019G>A	ENSP00000398832.4:p.Arg340His
ENST00000349243.7:c.1019G>A	ENSP00000273430.3:p.Arg340His
ENST00000402260.1:c.1106G>A	ENSP00000385641.2:p.Arg369His
ENST00000404754.2:c.1019G>A	ENSP00000385612.2:p.Arg340His
ENST00000418473.6:c.1124G>A	ENSP00000398832.3:p.Arg375His
ENST00000461609.1:c.1019G>A	ENSP00000418851.1:p.Arg340His
ENST00000474935.5:c.1019G>A	ENSP00000418084.1:p.Arg340His
ENST00000475347.5:c.1019G>A	ENSP00000419783.1:p.Arg340His
ENST00000497524.5:c.1019G>A	ENSP00000419422.1:p.Arg340His
NM_000685.4:c.1019G>A	NP_000676.1:p.Arg340His
NM_004835.4:c.1124G>A	NP_004826.5:p.Arg375His
NM_009585.3:c.1019G>A	NP_033611.1:p.Arg340His
NM_031850.3:c.1124G>A	NP_114038.4:p.Arg375His
NM_032049.3:c.1106G>A	NP_114438.2:p.Arg369His
NM_000685.5:c.1019G>A MANE Select	NP_000676.1:p.Arg340His
NM_001382736.1:c.1019G>A	NP_001369665.1:p.Arg340His
NM_001382737.1:c.1019G>A	NP_001369666.1:p.Arg340His
NM_004835.5:c.1019G>A	NP_004826.6:p.Arg340His
NM_009585.4:c.1019G>A	NP_033611.1:p.Arg340His
NM_031850.4:c.1019G>A	NP_114038.5:p.Arg340His
NM_032049.4:c.1019G>A	NP_114438.3:p.Arg340His