Canonical Allele Identifier: CA9025973
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1555150
ClinVar RCV Id: RCV002192754
dbSNP Id: rs771866084
gnomAD v2: 19-853254-C-T
gnomAD v3: 19-853254-C-T
gnomAD v4: 19-853254-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853254C>T , CM000681.2:g.853254C>T GRCh38
NC_000019.9:g.853254C>T , CM000681.1:g.853254C>T GRCh37
NC_000019.8:g.804254C>T NCBI36
NG_009627.1:g.5964C>T , LRG_57:g.5964C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.225-8C>T MANE Select ENSP00000263621.1:n.225-8C>T
ENST00000263621.1:c.225-8C>T ENSP00000263621.1:n.225-8C>T
ENST00000590230.5:c.225-8C>T ENSP00000466090.1:n.225-8C>T
NM_001972.2:c.225-8C>T , LRG_57t1:c.225-8C>T NP_001963.1:n.225-8C>T
XM_011527775.1:c.225-8C>T XP_011526077.1:n.225-8C>T
XM_011527776.1:c.225-8C>T XP_011526078.1:n.225-8C>T
NM_001972.3:c.225-8C>T NP_001963.1:n.225-8C>T
NM_001972.4:c.225-8C>T MANE Select NP_001963.1:n.225-8C>T