Canonical Allele Identifier: CA9026035
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1107550
ClinVar RCV Id: RCV001538412 RCV001796492
dbSNP Id: rs200752339
ExAC: 19:855556 C / T
gnomAD v2: 19-855556-C-T
gnomAD v4: 19-855556-C-T
MyVariant Identifiers: chr19:g.855556C>T (hg19) chr19:g.855556C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855556C>T , CM000681.2:g.855556C>T GRCh38
NC_000019.9:g.855556C>T , CM000681.1:g.855556C>T GRCh37
NC_000019.8:g.806556C>T NCBI36
NG_007274.1:g.892C>T , LRG_46:g.892C>T
NG_009627.1:g.8266C>T , LRG_57:g.8266C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-8C>T MANE Select ENSP00000263621.1:n.367-8C>T
ENST00000263621.1:c.367-8C>T ENSP00000263621.1:n.367-8C>T
ENST00000590230.5:c.367-8C>T ENSP00000466090.1:n.367-8C>T
NM_001972.2:c.367-8C>T , LRG_57t1:c.367-8C>T NP_001963.1:n.367-8C>T
XM_011527775.1:c.367-8C>T XP_011526077.1:n.367-8C>T
XM_011527776.1:c.367-8C>T XP_011526078.1:n.367-8C>T
NM_001972.3:c.367-8C>T NP_001963.1:n.367-8C>T
NM_001972.4:c.367-8C>T MANE Select NP_001963.1:n.367-8C>T
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