Canonical Allele Identifier: CA8700679

Gene: ACE

Linked Data

• ClinVar Variation Id: 2346883
• ClinVar RCV Id: RCV002946382
• dbSNP Id: rs767828019
• ExAC: 17:61574663 G / A
• gnomAD v2: 17-61574663-G-A
• gnomAD v3: 17-63497302-G-A
• gnomAD v4: 17-63497302-G-A
• MyVariant Identifiers: chr17:g.61574663G>A (hg19) ; chr17:g.63497302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497302G>A , CM000679.2:g.63497302G>A	GRCh38
NC_000017.10:g.61574663G>A , CM000679.1:g.61574663G>A	GRCh37
NC_000017.9:g.58928395G>A	NCBI36
NG_011648.1:g.25230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3857G>A MANE Select	ENSP00000290866.4:p.Arg1286His
ENST00000290863.10:c.2135G>A	ENSP00000290863.6:p.Arg712His
ENST00000290866.9:c.3857G>A	ENSP00000290866.4:p.Arg1286His
ENST00000413513.7:c.2012G>A	ENSP00000392247.3:p.Arg671His
ENST00000428043.5:c.*279G>A	ENSP00000397593.2:n.*279G>A
ENST00000577647.2:c.1969+317G>A	ENSP00000464149.1:n.1969+317G>A
ENST00000578839.5:c.*1612G>A	ENSP00000462110.2:n.*1612G>A
ENST00000579314.5:c.*1586G>A	ENSP00000462599.1:n.*1586G>A
NM_000789.3:c.3857G>A	NP_000780.1:p.Arg1286His
NM_001178057.1:c.2012G>A	NP_001171528.1:p.Arg671His
NM_152830.2:c.2135G>A	NP_690043.1:p.Arg712His
XM_005257110.1:c.3308G>A	XP_005257167.1:p.Arg1103His
XM_006721737.2:c.2195G>A	XP_006721800.2:p.Arg732His
XM_006721737.3:c.2195G>A	XP_006721800.2:p.Arg732His
NM_000789.4:c.3857G>A MANE Select	NP_000780.1:p.Arg1286His
NM_001178057.2:c.2012G>A	NP_001171528.1:p.Arg671His
NM_152830.3:c.2135G>A	NP_690043.1:p.Arg712His
NM_001382700.1:c.3290G>A	NP_001369629.1:p.Arg1097His
NM_001382701.1:c.3005G>A	NP_001369630.1:p.Arg1002His
NM_001382702.1:c.1472G>A	NP_001369631.1:p.Arg491His
NR_168483.1:n.2235G>A