Canonical Allele Identifier: CA402915928
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2683465
ClinVar RCV Id: RCV003480285
dbSNP Id: rs890280050
gnomAD v2: 19-853306-C-G
gnomAD v3: 19-853306-C-G
gnomAD v4: 19-853306-C-G
MyVariant Identifiers: chr19:g.853306C>G (hg19) chr19:g.853306C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853306C>G , CM000681.2:g.853306C>G GRCh38
NC_000019.9:g.853306C>G , CM000681.1:g.853306C>G GRCh37
NC_000019.8:g.804306C>G NCBI36
NG_009627.1:g.6016C>G , LRG_57:g.6016C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.269C>G MANE Select ENSP00000263621.1:p.Ser90Trp
ENST00000263621.1:c.269C>G ENSP00000263621.1:p.Ser90Trp
ENST00000590230.5:c.269C>G ENSP00000466090.1:p.Ser90Trp
NM_001972.2:c.269C>G , LRG_57t1:c.269C>G NP_001963.1:p.Ser90Trp
XM_011527775.1:c.269C>G XP_011526077.1:p.Ser90Trp
XM_011527776.1:c.269C>G XP_011526078.1:p.Ser90Trp
NM_001972.3:c.269C>G NP_001963.1:p.Ser90Trp
NM_001972.4:c.269C>G MANE Select NP_001963.1:p.Ser90Trp
Search 100 bp 5'
Search 100 bp 3'