Canonical Allele Identifier: CA290732
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 137203
ClinVar RCV Id: RCV000124882 RCV001795234 RCV001812028
dbSNP Id: rs17216614
ExAC: 19:852288 C / A
gnomAD v2: 19-852288-C-A
gnomAD v3: 19-852288-C-A
gnomAD v4: 19-852288-C-A
MyVariant Identifiers: chr19:g.852288C>A (hg19) chr19:g.852288C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852288C>A , CM000681.2:g.852288C>A GRCh38
NC_000019.9:g.852288C>A , CM000681.1:g.852288C>A GRCh37
NC_000019.8:g.803288C>A NCBI36
NG_009627.1:g.4998C>A , LRG_57:g.4998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000590230.5:c.-41C>A ENSP00000466090.1:n.-41C>A
XM_011527775.1:c.-41C>A XP_011526077.1:n.-41C>A
XM_011527776.1:c.-41C>A XP_011526078.1:n.-41C>A
NM_001972.3:c.-41C>A NP_001963.1:n.-41C>A
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