Canonical Allele Identifier: CA9025908
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 245741
ClinVar RCV Id: RCV000236034
dbSNP Id: rs755546229
gnomAD v2: 19-852388-G-A
gnomAD v3: 19-852388-G-A
gnomAD v4: 19-852388-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852388G>A , CM000681.2:g.852388G>A GRCh38
NC_000019.9:g.852388G>A , CM000681.1:g.852388G>A GRCh37
NC_000019.8:g.803388G>A NCBI36
NG_009627.1:g.5098G>A , LRG_57:g.5098G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.60G>A MANE Select ENSP00000263621.1:p.Leu20=
ENST00000263621.1:c.60G>A ENSP00000263621.1:p.Leu20=
ENST00000590230.5:c.60G>A ENSP00000466090.1:p.Leu20=
NM_001972.2:c.60G>A , LRG_57t1:c.60G>A NP_001963.1:p.Leu20=
XM_011527775.1:c.60G>A XP_011526077.1:p.Leu20=
XM_011527776.1:c.60G>A XP_011526078.1:p.Leu20=
NM_001972.3:c.60G>A NP_001963.1:p.Leu20=
NM_001972.4:c.60G>A MANE Select NP_001963.1:p.Leu20=