Canonical Allele Identifier: CA8699039

Gene: ACE

Linked Data

• ClinVar Variation Id: 2712486
• ClinVar RCV Id: RCV003547995 ; RCV004554241
• dbSNP Id: rs758436458
• ExAC: 17:61555463 G / A
• gnomAD v2: 17-61555463-G-A
• gnomAD v3: 17-63478102-G-A
• gnomAD v4: 17-63478102-G-A
• MyVariant Identifiers: chr17:g.61555463G>A (hg19) ; chr17:g.63478102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478102G>A , CM000679.2:g.63478102G>A	GRCh38
NC_000017.10:g.61555463G>A , CM000679.1:g.61555463G>A	GRCh37
NC_000017.9:g.58909195G>A	NCBI36
NG_011648.1:g.6030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.417+4G>A MANE Select	ENSP00000290866.4:n.417+4G>A
ENST00000290866.9:c.417+4G>A	ENSP00000290866.4:n.417+4G>A
ENST00000428043.5:c.417+4G>A	ENSP00000397593.2:n.417+4G>A
ENST00000579462.1:n.446G>A
ENST00000580318.1:n.606+4G>A
ENST00000582627.1:c.417+4G>A	ENSP00000462280.1:n.417+4G>A
ENST00000582678.5:c.417+4G>A	ENSP00000462995.1:n.417+4G>A
ENST00000583336.5:n.451+4G>A
ENST00000584529.5:n.451+4G>A
NM_000789.3:c.417+4G>A	NP_000780.1:n.417+4G>A
XM_005257110.1:c.-39+4G>A	XP_005257167.1:n.-39+4G>A
NM_000789.4:c.417+4G>A MANE Select	NP_000780.1:n.417+4G>A
NM_001382700.1:c.182+4G>A	NP_001369629.1:n.182+4G>A
NM_001382701.1:c.-198+4G>A	NP_001369630.1:n.-198+4G>A