Canonical Allele Identifier: CA10610220

Gene: AGT

Linked Data

• ClinVar Variation Id: 296092
• ClinVar RCV Id: RCV000377471 ; RCV001651344
• dbSNP Id: rs5050
• gnomAD v2: 1-230849886-T-G
• gnomAD v3: 1-230714140-T-G
• gnomAD v4: 1-230714140-T-G
• MyVariant Identifiers: chr1:g.230849886T>G (hg19) ; chr1:g.230714140T>G (hg38)
• PubMed: PMID:9403548

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230714140T>G , CM000663.2:g.230714140T>G	GRCh38
NC_000001.10:g.230849886T>G , CM000663.1:g.230849886T>G	GRCh37
NC_000001.9:g.228916509T>G	NCBI36
NG_008836.1:g.5451A>C
NG_008836.2:g.5451A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679684.1:c.-85A>C	ENSP00000505981.1:n.-85A>C
ENST00000679738.1:c.-85A>C	ENSP00000505063.1:n.-85A>C
ENST00000679802.1:c.-85A>C	ENSP00000505184.1:n.-85A>C
ENST00000679854.1:n.427A>C
ENST00000679957.1:c.-85A>C	ENSP00000506646.1:n.-85A>C
ENST00000680041.1:c.-210A>C	ENSP00000504866.1:n.-210A>C
ENST00000680783.1:c.-85A>C	ENSP00000506329.1:n.-85A>C
ENST00000681269.1:c.-30-3287A>C	ENSP00000505985.1:n.-30-3287A>C
ENST00000681347.1:n.427A>C
ENST00000681772.1:c.-85A>C	ENSP00000505829.1:n.-85A>C
ENST00000366667.4:c.-58A>C	ENSP00000355627.4:n.-58A>C
NM_000029.3:c.-58A>C	NP_000020.1:n.-58A>C
NM_001382817.3:c.-30-3287A>C	NP_001369746.2:n.-30-3287A>C