Canonical Allele Identifier: CA8699948

Gene: ACE

Linked Data

• ClinVar Variation Id: 1445639
• ClinVar RCV Id: RCV001985157
• dbSNP Id: rs200649158
• ExAC: 17:61564014 C / T
• gnomAD v2: 17-61564014-C-T
• gnomAD v3: 17-63486653-C-T
• gnomAD v4: 17-63486653-C-T
• MyVariant Identifiers: chr17:g.61564014C>T (hg19) ; chr17:g.63486653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486653C>T , CM000679.2:g.63486653C>T	GRCh38
NC_000017.10:g.61564014C>T , CM000679.1:g.61564014C>T	GRCh37
NC_000017.9:g.58917746C>T	NCBI36
NG_011648.1:g.14581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2155C>T MANE Select	ENSP00000290866.4:p.Arg719Trp
ENST00000290863.10:c.433C>T	ENSP00000290863.6:p.Arg145Trp
ENST00000290866.9:c.2155C>T	ENSP00000290866.4:p.Arg719Trp
ENST00000413513.7:c.433C>T	ENSP00000392247.3:p.Arg145Trp
ENST00000428043.5:c.2155C>T	ENSP00000397593.2:p.Arg719Trp
ENST00000577647.2:c.433C>T	ENSP00000464149.1:p.Arg145Trp
ENST00000578839.5:c.*225C>T	ENSP00000462110.2:n.*225C>T
ENST00000579204.1:c.336C>T	ENSP00000464629.1:n.336C>T
ENST00000579314.5:c.433C>T	ENSP00000462599.1:p.Arg145Trp
ENST00000579726.5:c.717C>T
ENST00000582005.5:c.*75C>T	ENSP00000462002.1:n.*75C>T
NM_000789.3:c.2155C>T	NP_000780.1:p.Arg719Trp
NM_001178057.1:c.433C>T	NP_001171528.1:p.Arg145Trp
NM_152830.2:c.433C>T	NP_690043.1:p.Arg145Trp
XM_005257110.1:c.1606C>T	XP_005257167.1:p.Arg536Trp
XM_006721737.2:c.493C>T	XP_006721800.2:p.Arg165Trp
XM_006721737.3:c.493C>T	XP_006721800.2:p.Arg165Trp
NM_000789.4:c.2155C>T MANE Select	NP_000780.1:p.Arg719Trp
NM_001178057.2:c.433C>T	NP_001171528.1:p.Arg145Trp
NM_152830.3:c.433C>T	NP_690043.1:p.Arg145Trp
NM_001382700.1:c.1588C>T	NP_001369629.1:p.Arg530Trp
NM_001382701.1:c.1303C>T	NP_001369630.1:p.Arg435Trp
NM_001382702.1:c.85C>T	NP_001369631.1:p.Arg29Trp
NR_168483.1:n.455C>T