Canonical Allele Identifier: CA290722
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 137199
ClinVar RCV Id: RCV000247387 RCV001812026 RCV001795230
dbSNP Id: rs17216649
ExAC: 19:855966 C / A
gnomAD v2: 19-855966-C-A
gnomAD v3: 19-855966-C-A
gnomAD v4: 19-855966-C-A
MyVariant Identifiers: chr19:g.855966C>A (hg19) chr19:g.855966C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855966C>A , CM000681.2:g.855966C>A GRCh38
NC_000019.9:g.855966C>A , CM000681.1:g.855966C>A GRCh37
NC_000019.8:g.806966C>A NCBI36
NG_007274.1:g.1302C>A , LRG_46:g.1302C>A
NG_009627.1:g.8676C>A , LRG_57:g.8676C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.606C>A MANE Select ENSP00000263621.1:p.Ser202=
ENST00000263621.1:c.606C>A ENSP00000263621.1:p.Ser202=
ENST00000590230.5:c.606C>A ENSP00000466090.1:p.Ser202=
NM_001972.2:c.606C>A , LRG_57t1:c.606C>A NP_001963.1:p.Ser202=
XM_011527775.1:c.606C>A XP_011526077.1:p.Ser202=
XM_011527776.1:c.606C>A XP_011526078.1:p.Ser202=
NM_001972.3:c.606C>A NP_001963.1:p.Ser202=
NM_001972.4:c.606C>A MANE Select NP_001963.1:p.Ser202=
Search 100 bp 5'
Search 100 bp 3'