Canonical Allele Identifier: CA9025996
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs770660263
gnomAD v2: 19-853341-C-G
gnomAD v4: 19-853341-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853341C>G , CM000681.2:g.853341C>G GRCh38
NC_000019.9:g.853341C>G , CM000681.1:g.853341C>G GRCh37
NC_000019.8:g.804341C>G NCBI36
NG_009627.1:g.6051C>G , LRG_57:g.6051C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.304C>G MANE Select ENSP00000263621.1:p.Gln102Glu
ENST00000263621.1:c.304C>G ENSP00000263621.1:p.Gln102Glu
ENST00000590230.5:c.304C>G ENSP00000466090.1:p.Gln102Glu
NM_001972.2:c.304C>G , LRG_57t1:c.304C>G NP_001963.1:p.Gln102Glu
XM_011527775.1:c.304C>G XP_011526077.1:p.Gln102Glu
XM_011527776.1:c.304C>G XP_011526078.1:p.Gln102Glu
NM_001972.3:c.304C>G NP_001963.1:p.Gln102Glu
NM_001972.4:c.304C>G MANE Select NP_001963.1:p.Gln102Glu