Canonical Allele Identifier: CA402917883
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2933841
ClinVar RCV Id: RCV003793399
dbSNP Id: rs774457980
gnomAD v2: 19-855600-G-T
gnomAD v4: 19-855600-G-T
MyVariant Identifiers: chr19:g.855600G>T (hg19) chr19:g.855600G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855600G>T , CM000681.2:g.855600G>T GRCh38
NC_000019.9:g.855600G>T , CM000681.1:g.855600G>T GRCh37
NC_000019.8:g.806600G>T NCBI36
NG_007274.1:g.936G>T , LRG_46:g.936G>T
NG_009627.1:g.8310G>T , LRG_57:g.8310G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.403G>T MANE Select ENSP00000263621.1:p.Val135Leu
ENST00000263621.1:c.403G>T ENSP00000263621.1:p.Val135Leu
ENST00000590230.5:c.403G>T ENSP00000466090.1:p.Val135Leu
NM_001972.2:c.403G>T , LRG_57t1:c.403G>T NP_001963.1:p.Val135Leu
XM_011527775.1:c.403G>T XP_011526077.1:p.Val135Leu
XM_011527776.1:c.403G>T XP_011526078.1:p.Val135Leu
NM_001972.3:c.403G>T NP_001963.1:p.Val135Leu
NM_001972.4:c.403G>T MANE Select NP_001963.1:p.Val135Leu
Search 100 bp 5'
Search 100 bp 3'