Canonical Allele Identifier: CA8700678

Gene: ACE

Linked Data

• ClinVar Variation Id: 256808
• ClinVar RCV Id: RCV000248386 ; RCV000260832 ; RCV001682987
• dbSNP Id: rs4364
• ExAC: 17:61574662 C / A
• gnomAD v2: 17-61574662-C-A
• gnomAD v3: 17-63497301-C-A
• gnomAD v4: 17-63497301-C-A
• MyVariant Identifiers: chr17:g.61574662C>A (hg19) ; chr17:g.63497301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497301C>A , CM000679.2:g.63497301C>A	GRCh38
NC_000017.10:g.61574662C>A , CM000679.1:g.61574662C>A	GRCh37
NC_000017.9:g.58928394C>A	NCBI36
NG_011648.1:g.25229C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3856C>A MANE Select	ENSP00000290866.4:p.Arg1286Ser
ENST00000290863.10:c.2134C>A	ENSP00000290863.6:p.Arg712Ser
ENST00000290866.9:c.3856C>A	ENSP00000290866.4:p.Arg1286Ser
ENST00000413513.7:c.2011C>A	ENSP00000392247.3:p.Arg671Ser
ENST00000428043.5:c.*278C>A	ENSP00000397593.2:n.*278C>A
ENST00000577647.2:c.1969+316C>A	ENSP00000464149.1:n.1969+316C>A
ENST00000578839.5:c.*1611C>A	ENSP00000462110.2:n.*1611C>A
ENST00000579314.5:c.*1585C>A	ENSP00000462599.1:n.*1585C>A
NM_000789.3:c.3856C>A	NP_000780.1:p.Arg1286Ser
NM_001178057.1:c.2011C>A	NP_001171528.1:p.Arg671Ser
NM_152830.2:c.2134C>A	NP_690043.1:p.Arg712Ser
XM_005257110.1:c.3307C>A	XP_005257167.1:p.Arg1103Ser
XM_006721737.2:c.2194C>A	XP_006721800.2:p.Arg732Ser
XM_006721737.3:c.2194C>A	XP_006721800.2:p.Arg732Ser
NM_000789.4:c.3856C>A MANE Select	NP_000780.1:p.Arg1286Ser
NM_001178057.2:c.2011C>A	NP_001171528.1:p.Arg671Ser
NM_152830.3:c.2134C>A	NP_690043.1:p.Arg712Ser
NM_001382700.1:c.3289C>A	NP_001369629.1:p.Arg1097Ser
NM_001382701.1:c.3004C>A	NP_001369630.1:p.Arg1002Ser
NM_001382702.1:c.1471C>A	NP_001369631.1:p.Arg491Ser
NR_168483.1:n.2234C>A