Canonical Allele Identifier: CA9026092
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 839730
ClinVar RCV Id: RCV001796347
dbSNP Id: rs200592180
gnomAD v2: 19-855762-C-A
gnomAD v3: 19-855762-C-A
gnomAD v4: 19-855762-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855762C>A , CM000681.2:g.855762C>A GRCh38
NC_000019.9:g.855762C>A , CM000681.1:g.855762C>A GRCh37
NC_000019.8:g.806762C>A NCBI36
NG_007274.1:g.1098C>A , LRG_46:g.1098C>A
NG_009627.1:g.8472C>A , LRG_57:g.8472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.565C>A MANE Select ENSP00000263621.1:p.Leu189Ile
ENST00000263621.1:c.565C>A ENSP00000263621.1:p.Leu189Ile
ENST00000590230.5:c.565C>A ENSP00000466090.1:p.Leu189Ile
NM_001972.2:c.565C>A , LRG_57t1:c.565C>A NP_001963.1:p.Leu189Ile
XM_011527775.1:c.565C>A XP_011526077.1:p.Leu189Ile
XM_011527776.1:c.565C>A XP_011526078.1:p.Leu189Ile
NM_001972.3:c.565C>A NP_001963.1:p.Leu189Ile
NM_001972.4:c.565C>A MANE Select NP_001963.1:p.Leu189Ile