Canonical Allele Identifier: CA346328
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 180347
ClinVar RCV Id: RCV000157220
dbSNP Id: rs730880095

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855955C>G , CM000681.2:g.855955C>G GRCh38
NC_000019.9:g.855955C>G , CM000681.1:g.855955C>G GRCh37
NC_000019.8:g.806955C>G NCBI36
NG_007274.1:g.1291C>G , LRG_46:g.1291C>G
NG_009627.1:g.8665C>G , LRG_57:g.8665C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.598-3C>G MANE Select ENSP00000263621.1:n.598-3C>G
ENST00000263621.1:c.598-3C>G ENSP00000263621.1:n.598-3C>G
ENST00000590230.5:c.598-3C>G ENSP00000466090.1:n.598-3C>G
NM_001972.2:c.598-3C>G , LRG_57t1:c.598-3C>G NP_001963.1:n.598-3C>G
XM_011527775.1:c.598-3C>G XP_011526077.1:n.598-3C>G
XM_011527776.1:c.598-3C>G XP_011526078.1:n.598-3C>G
NM_001972.3:c.598-3C>G NP_001963.1:n.598-3C>G
NM_001972.4:c.598-3C>G MANE Select NP_001963.1:n.598-3C>G