Canonical Allele Identifier: CA402916373
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1338207
ClinVar RCV Id: RCV001822805 RCV001869776 RCV003416482 RCV003481133
dbSNP Id: rs1382122842
gnomAD v2: 19-853389-A-G
gnomAD v3: 19-853389-A-G
gnomAD v4: 19-853389-A-G
MyVariant Identifiers: chr19:g.853389A>G (hg19) chr19:g.853389A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853389A>G , CM000681.2:g.853389A>G GRCh38
NC_000019.9:g.853389A>G , CM000681.1:g.853389A>G GRCh37
NC_000019.8:g.804389A>G NCBI36
NG_009627.1:g.6099A>G , LRG_57:g.6099A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.352A>G MANE Select ENSP00000263621.1:p.Ile118Val
ENST00000263621.1:c.352A>G ENSP00000263621.1:p.Ile118Val
ENST00000590230.5:c.352A>G ENSP00000466090.1:p.Ile118Val
NM_001972.2:c.352A>G , LRG_57t1:c.352A>G NP_001963.1:p.Ile118Val
XM_011527775.1:c.352A>G XP_011526077.1:p.Ile118Val
XM_011527776.1:c.352A>G XP_011526078.1:p.Ile118Val
NM_001972.3:c.352A>G NP_001963.1:p.Ile118Val
NM_001972.4:c.352A>G MANE Select NP_001963.1:p.Ile118Val
Search 100 bp 5'
Search 100 bp 3'