Canonical Allele Identifier: CA8700641

Gene: ACE

Linked Data

• ClinVar Variation Id: 2908348
• ClinVar RCV Id: RCV003729739
• dbSNP Id: rs375754441
• ExAC: 17:61574502 C / A
• gnomAD v2: 17-61574502-C-A
• gnomAD v3: 17-63497141-C-A
• gnomAD v4: 17-63497141-C-A
• MyVariant Identifiers: chr17:g.61574502C>A (hg19) ; chr17:g.63497141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497141C>A , CM000679.2:g.63497141C>A	GRCh38
NC_000017.10:g.61574502C>A , CM000679.1:g.61574502C>A	GRCh37
NC_000017.9:g.58928234C>A	NCBI36
NG_011648.1:g.25069C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3696C>A MANE Select	ENSP00000290866.4:p.Arg1232=
ENST00000290863.10:c.1974C>A	ENSP00000290863.6:p.Arg658=
ENST00000290866.9:c.3696C>A	ENSP00000290866.4:p.Arg1232=
ENST00000413513.7:c.1851C>A	ENSP00000392247.3:p.Arg617=
ENST00000428043.5:c.*118C>A	ENSP00000397593.2:n.*118C>A
ENST00000577418.5:n.706C>A
ENST00000577647.2:c.1969+156C>A	ENSP00000464149.1:n.1969+156C>A
ENST00000578839.5:c.*1451C>A	ENSP00000462110.2:n.*1451C>A
ENST00000579314.5:c.*1425C>A	ENSP00000462599.1:n.*1425C>A
ENST00000579409.1:c.534C>A
NM_000789.3:c.3696C>A	NP_000780.1:p.Arg1232=
NM_001178057.1:c.1851C>A	NP_001171528.1:p.Arg617=
NM_152830.2:c.1974C>A	NP_690043.1:p.Arg658=
XM_005257110.1:c.3147C>A	XP_005257167.1:p.Arg1049=
XM_006721737.2:c.2034C>A	XP_006721800.2:p.Arg678=
XM_006721737.3:c.2034C>A	XP_006721800.2:p.Arg678=
NM_000789.4:c.3696C>A MANE Select	NP_000780.1:p.Arg1232=
NM_001178057.2:c.1851C>A	NP_001171528.1:p.Arg617=
NM_152830.3:c.1974C>A	NP_690043.1:p.Arg658=
NM_001382700.1:c.3129C>A	NP_001369629.1:p.Arg1043=
NM_001382701.1:c.2844C>A	NP_001369630.1:p.Arg948=
NM_001382702.1:c.1311C>A	NP_001369631.1:p.Arg437=
NR_168483.1:n.2074C>A