Canonical Allele Identifier: CA281052
Gene: ELANE HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.853022G>A
GRCh37 chr19:g.853022G>A
Revel Score:
ENST00000263621 (MANE Select) 0.258
gnomAD v3:
19:853022 G / A
gnomAD v4:
chr19-853022-G-A
Joint Max Group AF 8.1e-7 (NFE)
Exomes Max Group AF 7.3e-7 (NFE)
ClinVar RCV:
RCV000018228
RCV003764587
ClinVar Variation:
16744
dbSNP:
387906553
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853022G>A , CM000681.2:g.853022G>A GRCh38
NC_000019.9:g.853022G>A , CM000681.1:g.853022G>A GRCh37
NC_000019.8:g.804022G>A NCBI36
NG_009627.1:g.5732G>A , LRG_57:g.5732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.214G>A MANE Select ENSP00000263621.1:p.Val72Met
ENST00000263621.1:c.214G>A ENSP00000263621.1:p.Val72Met
ENST00000590230.5:c.214G>A ENSP00000466090.1:p.Val72Met
NM_001972.2:c.214G>A , LRG_57t1:c.214G>A NP_001963.1:p.Val72Met
XM_011527775.1:c.214G>A XP_011526077.1:p.Val72Met
XM_011527776.1:c.214G>A XP_011526078.1:p.Val72Met
NM_001972.3:c.214G>A NP_001963.1:p.Val72Met
NM_001972.4:c.214G>A MANE Select NP_001963.1:p.Val72Met
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