Canonical Allele Identifier: CA1448082

Gene: AGT

Linked Data

• dbSNP Id: rs745486202
• ExAC: 1:230839927 G / T
• gnomAD v2: 1-230839927-G-T
• gnomAD v4: 1-230704181-G-T
• MyVariant Identifiers: chr1:g.230839927G>T (hg19) ; chr1:g.230704181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230704181G>T , CM000663.2:g.230704181G>T	GRCh38
NC_000001.10:g.230839927G>T , CM000663.1:g.230839927G>T	GRCh37
NC_000001.9:g.228906550G>T	NCBI36
NG_008836.1:g.15410C>A
NG_008836.2:g.15410C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.6:c.1242+12C>A MANE Select	ENSP00000355627.5:n.1242+12C>A
ENST00000679684.1:c.1242+12C>A	ENSP00000505981.1:n.1242+12C>A
ENST00000679738.1:c.1242+12C>A	ENSP00000505063.1:n.1242+12C>A
ENST00000679802.1:c.*701+12C>A	ENSP00000505184.1:n.*701+12C>A
ENST00000679854.1:n.5547+12C>A
ENST00000679957.1:c.1233+21C>A	ENSP00000506646.1:n.1233+21C>A
ENST00000680041.1:c.1242+12C>A	ENSP00000504866.1:n.1242+12C>A
ENST00000680783.1:c.829+5814C>A	ENSP00000506329.1:n.829+5814C>A
ENST00000681269.1:c.1242+12C>A	ENSP00000505985.1:n.1242+12C>A
ENST00000681347.1:n.3348+12C>A
ENST00000681514.1:c.1242+12C>A	ENSP00000505963.1:n.1242+12C>A
ENST00000681772.1:c.*736+12C>A	ENSP00000505829.1:n.*736+12C>A
ENST00000366667.4:c.1269+12C>A	ENSP00000355627.4:n.1269+12C>A
NM_000029.3:c.1269+12C>A	NP_000020.1:n.1269+12C>A
NM_000029.4:c.1269+12C>A	NP_000020.1:n.1269+12C>A
NM_001382817.3:c.1242+12C>A	NP_001369746.2:n.1242+12C>A
NM_001384479.1:c.1242+12C>A MANE Select	NP_001371408.1:n.1242+12C>A