Canonical Allele Identifier: CA504684683
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2945607
ClinVar RCV Id: RCV003803701
dbSNP Id: rs1331769113
gnomAD v2: 19-852928-G-A
gnomAD v4: 19-852928-G-A
COSMIC: COSM4083034
MyVariant Identifiers: chr19:g.852928G>A (hg19) chr19:g.852928G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852928G>A , CM000681.2:g.852928G>A GRCh38
NC_000019.9:g.852928G>A , CM000681.1:g.852928G>A GRCh37
NC_000019.8:g.803928G>A NCBI36
NG_009627.1:g.5638G>A , LRG_57:g.5638G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.120G>A MANE Select ENSP00000263621.1:p.Ala40=
ENST00000263621.1:c.120G>A ENSP00000263621.1:p.Ala40=
ENST00000590230.5:c.120G>A ENSP00000466090.1:p.Ala40=
NM_001972.2:c.120G>A , LRG_57t1:c.120G>A NP_001963.1:p.Ala40=
XM_011527775.1:c.120G>A XP_011526077.1:p.Ala40=
XM_011527776.1:c.120G>A XP_011526078.1:p.Ala40=
NM_001972.3:c.120G>A NP_001963.1:p.Ala40=
NM_001972.4:c.120G>A MANE Select NP_001963.1:p.Ala40=
Search 100 bp 5'
Search 100 bp 3'