Canonical Allele Identifier: CA8700095

Gene: ACE

Linked Data

• ClinVar Variation Id: 1983540
• ClinVar RCV Id: RCV002800026 ; RCV003308273
• dbSNP Id: rs375979946
• ExAC: 17:61566144 G / A
• gnomAD v2: 17-61566144-G-A
• gnomAD v3: 17-63488783-G-A
• gnomAD v4: 17-63488783-G-A
• MyVariant Identifiers: chr17:g.61566144G>A (hg19) ; chr17:g.63488783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488783G>A , CM000679.2:g.63488783G>A	GRCh38
NC_000017.10:g.61566144G>A , CM000679.1:g.61566144G>A	GRCh37
NC_000017.9:g.58919876G>A	NCBI36
NG_011648.1:g.16711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2441G>A MANE Select	ENSP00000290866.4:p.Arg814Gln
ENST00000290863.10:c.719G>A	ENSP00000290863.6:p.Arg240Gln
ENST00000290866.9:c.2441G>A	ENSP00000290866.4:p.Arg814Gln
ENST00000413513.7:c.719G>A	ENSP00000392247.3:p.Arg240Gln
ENST00000428043.5:c.2441G>A	ENSP00000397593.2:p.Arg814Gln
ENST00000577647.2:c.719G>A	ENSP00000464149.1:p.Arg240Gln
ENST00000578839.5:c.*511G>A	ENSP00000462110.2:n.*511G>A
ENST00000579204.1:c.700G>A	ENSP00000464629.1:n.700G>A
ENST00000579314.5:c.*170G>A	ENSP00000462599.1:n.*170G>A
ENST00000582005.5:c.*361G>A	ENSP00000462002.1:n.*361G>A
ENST00000582761.1:c.209G>A	ENSP00000462909.1:p.Arg70Gln
ENST00000584865.5:n.387G>A
NM_000789.3:c.2441G>A	NP_000780.1:p.Arg814Gln
NM_001178057.1:c.719G>A	NP_001171528.1:p.Arg240Gln
NM_152830.2:c.719G>A	NP_690043.1:p.Arg240Gln
XM_005257110.1:c.1892G>A	XP_005257167.1:p.Arg631Gln
XM_006721737.2:c.779G>A	XP_006721800.2:p.Arg260Gln
XM_006721737.3:c.779G>A	XP_006721800.2:p.Arg260Gln
NM_000789.4:c.2441G>A MANE Select	NP_000780.1:p.Arg814Gln
NM_001178057.2:c.719G>A	NP_001171528.1:p.Arg240Gln
NM_152830.3:c.719G>A	NP_690043.1:p.Arg240Gln
NM_001382700.1:c.1874G>A	NP_001369629.1:p.Arg625Gln
NM_001382701.1:c.1589G>A	NP_001369630.1:p.Arg530Gln
NM_001382702.1:c.371G>A	NP_001369631.1:p.Arg124Gln
NR_168483.1:n.819G>A