Canonical Allele Identifier: CA9026142
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2648869
ClinVar RCV Id: RCV003423142
dbSNP Id: rs747904347
ExAC: 19:856048 G / A
gnomAD v2: 19-856048-G-A
gnomAD v4: 19-856048-G-A
MyVariant Identifiers: chr19:g.856048G>A (hg19) chr19:g.856048G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856048G>A , CM000681.2:g.856048G>A GRCh38
NC_000019.9:g.856048G>A , CM000681.1:g.856048G>A GRCh37
NC_000019.8:g.807048G>A NCBI36
NG_007274.1:g.1384G>A , LRG_46:g.1384G>A
NG_009627.1:g.8758G>A , LRG_57:g.8758G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.688G>A MANE Select ENSP00000263621.1:p.Asp230Asn
ENST00000263621.1:c.688G>A ENSP00000263621.1:p.Asp230Asn
ENST00000590230.5:c.688G>A ENSP00000466090.1:p.Asp230Asn
NM_001972.2:c.688G>A , LRG_57t1:c.688G>A NP_001963.1:p.Asp230Asn
XM_011527775.1:c.688G>A XP_011526077.1:p.Asp230Asn
XM_011527776.1:c.688G>A XP_011526078.1:p.Asp230Asn
NM_001972.3:c.688G>A NP_001963.1:p.Asp230Asn
NM_001972.4:c.688G>A MANE Select NP_001963.1:p.Asp230Asn
Search 100 bp 5'
Search 100 bp 3'