Canonical Allele Identifier: CA8700050

Gene: ACE

Linked Data

• ClinVar Variation Id: 256802
• ClinVar RCV Id: RCV000246979 ; RCV001548831 ; RCV001610586
• dbSNP Id: rs4341
• ExAC: 17:61565990 G / C
• gnomAD v2: 17-61565990-G-C
• gnomAD v3: 17-63488629-G-C
• gnomAD v4: 17-63488629-G-C
• MyVariant Identifiers: chr17:g.61565990G>C (hg19) ; chr17:g.63488629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488629G>C , CM000679.2:g.63488629G>C	GRCh38
NC_000017.10:g.61565990G>C , CM000679.1:g.61565990G>C	GRCh37
NC_000017.9:g.58919722G>C	NCBI36
NG_011648.1:g.16557G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-19G>C MANE Select	ENSP00000290866.4:n.2306-19G>C
ENST00000290863.10:c.584-19G>C	ENSP00000290863.6:n.584-19G>C
ENST00000290866.9:c.2306-19G>C	ENSP00000290866.4:n.2306-19G>C
ENST00000413513.7:c.584-19G>C	ENSP00000392247.3:n.584-19G>C
ENST00000428043.5:c.2306-19G>C	ENSP00000397593.2:n.2306-19G>C
ENST00000577647.2:c.584-19G>C	ENSP00000464149.1:n.584-19G>C
ENST00000578839.5:c.*376-19G>C	ENSP00000462110.2:n.*376-19G>C
ENST00000579204.1:c.546G>C	ENSP00000464629.1:n.546G>C
ENST00000579314.5:c.*16G>C	ENSP00000462599.1:n.*16G>C
ENST00000582005.5:c.*226-19G>C	ENSP00000462002.1:n.*226-19G>C
ENST00000582761.1:c.74-19G>C	ENSP00000462909.1:n.74-19G>C
ENST00000584865.5:n.252-19G>C
NM_000789.3:c.2306-19G>C	NP_000780.1:n.2306-19G>C
NM_001178057.1:c.584-19G>C	NP_001171528.1:n.584-19G>C
NM_152830.2:c.584-19G>C	NP_690043.1:n.584-19G>C
XM_005257110.1:c.1757-19G>C	XP_005257167.1:n.1757-19G>C
XM_006721737.2:c.644-19G>C	XP_006721800.2:n.644-19G>C
XM_006721737.3:c.644-19G>C	XP_006721800.2:n.644-19G>C
NM_000789.4:c.2306-19G>C MANE Select	NP_000780.1:n.2306-19G>C
NM_001178057.2:c.584-19G>C	NP_001171528.1:n.584-19G>C
NM_152830.3:c.584-19G>C	NP_690043.1:n.584-19G>C
NM_001382700.1:c.1739-19G>C	NP_001369629.1:n.1739-19G>C
NM_001382701.1:c.1454-19G>C	NP_001369630.1:n.1454-19G>C
NM_001382702.1:c.236-19G>C	NP_001369631.1:n.236-19G>C
NR_168483.1:n.665G>C