Canonical Allele Identifier: CA8700677

Gene: ACE

Linked Data

• ClinVar Variation Id: 2084025
• ClinVar RCV Id: RCV003009346
• dbSNP Id: rs375527470
• ExAC: 17:61574656 C / T
• gnomAD v2: 17-61574656-C-T
• gnomAD v3: 17-63497295-C-T
• gnomAD v4: 17-63497295-C-T
• MyVariant Identifiers: chr17:g.61574656C>T (hg19) ; chr17:g.63497295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497295C>T , CM000679.2:g.63497295C>T	GRCh38
NC_000017.10:g.61574656C>T , CM000679.1:g.61574656C>T	GRCh37
NC_000017.9:g.58928388C>T	NCBI36
NG_011648.1:g.25223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3850C>T MANE Select	ENSP00000290866.4:p.Arg1284Cys
ENST00000290863.10:c.2128C>T	ENSP00000290863.6:p.Arg710Cys
ENST00000290866.9:c.3850C>T	ENSP00000290866.4:p.Arg1284Cys
ENST00000413513.7:c.2005C>T	ENSP00000392247.3:p.Arg669Cys
ENST00000428043.5:c.*272C>T	ENSP00000397593.2:n.*272C>T
ENST00000577647.2:c.1969+310C>T	ENSP00000464149.1:n.1969+310C>T
ENST00000578839.5:c.*1605C>T	ENSP00000462110.2:n.*1605C>T
ENST00000579314.5:c.*1579C>T	ENSP00000462599.1:n.*1579C>T
NM_000789.3:c.3850C>T	NP_000780.1:p.Arg1284Cys
NM_001178057.1:c.2005C>T	NP_001171528.1:p.Arg669Cys
NM_152830.2:c.2128C>T	NP_690043.1:p.Arg710Cys
XM_005257110.1:c.3301C>T	XP_005257167.1:p.Arg1101Cys
XM_006721737.2:c.2188C>T	XP_006721800.2:p.Arg730Cys
XM_006721737.3:c.2188C>T	XP_006721800.2:p.Arg730Cys
NM_000789.4:c.3850C>T MANE Select	NP_000780.1:p.Arg1284Cys
NM_001178057.2:c.2005C>T	NP_001171528.1:p.Arg669Cys
NM_152830.3:c.2128C>T	NP_690043.1:p.Arg710Cys
NM_001382700.1:c.3283C>T	NP_001369629.1:p.Arg1095Cys
NM_001382701.1:c.2998C>T	NP_001369630.1:p.Arg1000Cys
NM_001382702.1:c.1465C>T	NP_001369631.1:p.Arg489Cys
NR_168483.1:n.2228C>T