Canonical Allele Identifier: CA9026044
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 258498
dbSNP Id: rs17223045
gnomAD v2: 19-855587-C-T
gnomAD v3: 19-855587-C-T
gnomAD v4: 19-855587-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855587C>T , CM000681.2:g.855587C>T GRCh38
NC_000019.9:g.855587C>T , CM000681.1:g.855587C>T GRCh37
NC_000019.8:g.806587C>T NCBI36
NG_007274.1:g.923C>T , LRG_46:g.923C>T
NG_009627.1:g.8297C>T , LRG_57:g.8297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.390C>T MANE Select ENSP00000263621.1:p.Asn130=
ENST00000263621.1:c.390C>T ENSP00000263621.1:p.Asn130=
ENST00000590230.5:c.390C>T ENSP00000466090.1:p.Asn130=
NM_001972.2:c.390C>T , LRG_57t1:c.390C>T NP_001963.1:p.Asn130=
XM_011527775.1:c.390C>T XP_011526077.1:p.Asn130=
XM_011527776.1:c.390C>T XP_011526078.1:p.Asn130=
NM_001972.3:c.390C>T NP_001963.1:p.Asn130=
NM_001972.4:c.390C>T MANE Select NP_001963.1:p.Asn130=