Canonical Allele Identifier: CA8700684

Gene: ACE

Linked Data

• ClinVar Variation Id: 889021
• ClinVar RCV Id: RCV001122700
• dbSNP Id: rs750229908
• ExAC: 17:61574697 C / T
• gnomAD v2: 17-61574697-C-T
• gnomAD v4: 17-63497336-C-T
• MyVariant Identifiers: chr17:g.61574697C>T (hg19) ; chr17:g.63497336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497336C>T , CM000679.2:g.63497336C>T	GRCh38
NC_000017.10:g.61574697C>T , CM000679.1:g.61574697C>T	GRCh37
NC_000017.9:g.58928429C>T	NCBI36
NG_011648.1:g.25264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3891C>T MANE Select	ENSP00000290866.4:p.Phe1297=
ENST00000290863.10:c.2169C>T	ENSP00000290863.6:p.Phe723=
ENST00000290866.9:c.3891C>T	ENSP00000290866.4:p.Phe1297=
ENST00000413513.7:c.2046C>T	ENSP00000392247.3:p.Phe682=
ENST00000428043.5:c.*313C>T	ENSP00000397593.2:n.*313C>T
ENST00000577647.2:c.1969+351C>T	ENSP00000464149.1:n.1969+351C>T
ENST00000578839.5:c.*1646C>T	ENSP00000462110.2:n.*1646C>T
ENST00000579314.5:c.*1620C>T	ENSP00000462599.1:n.*1620C>T
NM_000789.3:c.3891C>T	NP_000780.1:p.Phe1297=
NM_001178057.1:c.2046C>T	NP_001171528.1:p.Phe682=
NM_152830.2:c.2169C>T	NP_690043.1:p.Phe723=
XM_005257110.1:c.3342C>T	XP_005257167.1:p.Phe1114=
XM_006721737.2:c.2229C>T	XP_006721800.2:p.Phe743=
XM_006721737.3:c.2229C>T	XP_006721800.2:p.Phe743=
NM_000789.4:c.3891C>T MANE Select	NP_000780.1:p.Phe1297=
NM_001178057.2:c.2046C>T	NP_001171528.1:p.Phe682=
NM_152830.3:c.2169C>T	NP_690043.1:p.Phe723=
NM_001382700.1:c.3324C>T	NP_001369629.1:p.Phe1108=
NM_001382701.1:c.3039C>T	NP_001369630.1:p.Phe1013=
NM_001382702.1:c.1506C>T	NP_001369631.1:p.Phe502=
NR_168483.1:n.2269C>T