Canonical Allele Identifier: CA402917721
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 966770
ClinVar RCV Id: RCV001796409
dbSNP Id: rs200595736
gnomAD v4: 19-855569-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855569C>A , CM000681.2:g.855569C>A GRCh38
NC_000019.9:g.855569C>A , CM000681.1:g.855569C>A GRCh37
NC_000019.8:g.806569C>A NCBI36
NG_007274.1:g.905C>A , LRG_46:g.905C>A
NG_009627.1:g.8279C>A , LRG_57:g.8279C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.372C>A MANE Select ENSP00000263621.1:p.Asn124Lys
ENST00000263621.1:c.372C>A ENSP00000263621.1:p.Asn124Lys
ENST00000590230.5:c.372C>A ENSP00000466090.1:p.Asn124Lys
NM_001972.2:c.372C>A , LRG_57t1:c.372C>A NP_001963.1:p.Asn124Lys
XM_011527775.1:c.372C>A XP_011526077.1:p.Asn124Lys
XM_011527776.1:c.372C>A XP_011526078.1:p.Asn124Lys
NM_001972.3:c.372C>A NP_001963.1:p.Asn124Lys
NM_001972.4:c.372C>A MANE Select NP_001963.1:p.Asn124Lys