Canonical Allele Identifier: CA8700140

Gene: ACE

Linked Data

• ClinVar Variation Id: 890610
• ClinVar RCV Id: RCV001125299 ; RCV002482240 ; RCV002556714
• dbSNP Id: rs3730036
• ExAC: 17:61566370 C / A
• gnomAD v2: 17-61566370-C-A
• gnomAD v3: 17-63489009-C-A
• gnomAD v4: 17-63489009-C-A
• MyVariant Identifiers: chr17:g.61566370C>A (hg19) ; chr17:g.63489009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489009C>A , CM000679.2:g.63489009C>A	GRCh38
NC_000017.10:g.61566370C>A , CM000679.1:g.61566370C>A	GRCh37
NC_000017.9:g.58920102C>A	NCBI36
NG_011648.1:g.16937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2518C>A MANE Select	ENSP00000290866.4:p.Arg840=
ENST00000290863.10:c.796C>A	ENSP00000290863.6:p.Arg266=
ENST00000290866.9:c.2518C>A	ENSP00000290866.4:p.Arg840=
ENST00000413513.7:c.796C>A	ENSP00000392247.3:p.Arg266=
ENST00000428043.5:c.2518C>A	ENSP00000397593.2:p.Arg840=
ENST00000577647.2:c.796C>A	ENSP00000464149.1:p.Arg266=
ENST00000578839.5:c.*519+218C>A	ENSP00000462110.2:n.*519+218C>A
ENST00000579204.1:c.777C>A	ENSP00000464629.1:n.777C>A
ENST00000579314.5:c.*247C>A	ENSP00000462599.1:n.*247C>A
ENST00000582005.5:c.*438C>A	ENSP00000462002.1:n.*438C>A
ENST00000582761.1:c.286C>A	ENSP00000462909.1:p.Arg96=
ENST00000584865.5:n.464C>A
NM_000789.3:c.2518C>A	NP_000780.1:p.Arg840=
NM_001178057.1:c.796C>A	NP_001171528.1:p.Arg266=
NM_152830.2:c.796C>A	NP_690043.1:p.Arg266=
XM_005257110.1:c.1969C>A	XP_005257167.1:p.Arg657=
XM_006721737.2:c.856C>A	XP_006721800.2:p.Arg286=
XM_006721737.3:c.856C>A	XP_006721800.2:p.Arg286=
NM_000789.4:c.2518C>A MANE Select	NP_000780.1:p.Arg840=
NM_001178057.2:c.796C>A	NP_001171528.1:p.Arg266=
NM_152830.3:c.796C>A	NP_690043.1:p.Arg266=
NM_001382700.1:c.1951C>A	NP_001369629.1:p.Arg651=
NM_001382701.1:c.1666C>A	NP_001369630.1:p.Arg556=
NM_001382702.1:c.379+218C>A	NP_001369631.1:n.379+218C>A
NR_168483.1:n.896C>A