Canonical Allele Identifier: CA8700668

Gene: ACE

Linked Data

• ClinVar Variation Id: 798009
• ClinVar RCV Id: RCV000981503 ; RCV001128412
• dbSNP Id: rs369306676
• ExAC: 17:61574611 C / T
• gnomAD v2: 17-61574611-C-T
• gnomAD v3: 17-63497250-C-T
• gnomAD v4: 17-63497250-C-T
• MyVariant Identifiers: chr17:g.61574611C>T (hg19) ; chr17:g.63497250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497250C>T , CM000679.2:g.63497250C>T	GRCh38
NC_000017.10:g.61574611C>T , CM000679.1:g.61574611C>T	GRCh37
NC_000017.9:g.58928343C>T	NCBI36
NG_011648.1:g.25178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3805C>T MANE Select	ENSP00000290866.4:p.Leu1269=
ENST00000290863.10:c.2083C>T	ENSP00000290863.6:p.Leu695=
ENST00000290866.9:c.3805C>T	ENSP00000290866.4:p.Leu1269=
ENST00000413513.7:c.1960C>T	ENSP00000392247.3:p.Leu654=
ENST00000428043.5:c.*227C>T	ENSP00000397593.2:n.*227C>T
ENST00000577647.2:c.1969+265C>T	ENSP00000464149.1:n.1969+265C>T
ENST00000578839.5:c.*1560C>T	ENSP00000462110.2:n.*1560C>T
ENST00000579314.5:c.*1534C>T	ENSP00000462599.1:n.*1534C>T
NM_000789.3:c.3805C>T	NP_000780.1:p.Leu1269=
NM_001178057.1:c.1960C>T	NP_001171528.1:p.Leu654=
NM_152830.2:c.2083C>T	NP_690043.1:p.Leu695=
XM_005257110.1:c.3256C>T	XP_005257167.1:p.Leu1086=
XM_006721737.2:c.2143C>T	XP_006721800.2:p.Leu715=
XM_006721737.3:c.2143C>T	XP_006721800.2:p.Leu715=
NM_000789.4:c.3805C>T MANE Select	NP_000780.1:p.Leu1269=
NM_001178057.2:c.1960C>T	NP_001171528.1:p.Leu654=
NM_152830.3:c.2083C>T	NP_690043.1:p.Leu695=
NM_001382700.1:c.3238C>T	NP_001369629.1:p.Leu1080=
NM_001382701.1:c.2953C>T	NP_001369630.1:p.Leu985=
NM_001382702.1:c.1420C>T	NP_001369631.1:p.Leu474=
NR_168483.1:n.2183C>T