Canonical Allele Identifier: CA631007507
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1236936
ClinVar RCV Id: RCV001639451
dbSNP Id: rs17216614
gnomAD v2: 19-852288-C-T
gnomAD v3: 19-852288-C-T
gnomAD v4: 19-852288-C-T
MyVariant Identifiers: chr19:g.852288C>T (hg19) chr19:g.852288C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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