Canonical Allele Identifier: CA402916334
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 572913
ClinVar RCV Id: RCV001796188
dbSNP Id: rs1568304522
gnomAD v4: 19-853379-G-T
MyVariant Identifiers: chr19:g.853379G>T (hg19) chr19:g.853379G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853379G>T , CM000681.2:g.853379G>T GRCh38
NC_000019.9:g.853379G>T , CM000681.1:g.853379G>T GRCh37
NC_000019.8:g.804379G>T NCBI36
NG_009627.1:g.6089G>T , LRG_57:g.6089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.342G>T MANE Select ENSP00000263621.1:p.Leu114Phe
ENST00000263621.1:c.342G>T ENSP00000263621.1:p.Leu114Phe
ENST00000590230.5:c.342G>T ENSP00000466090.1:p.Leu114Phe
NM_001972.2:c.342G>T , LRG_57t1:c.342G>T NP_001963.1:p.Leu114Phe
XM_011527775.1:c.342G>T XP_011526077.1:p.Leu114Phe
XM_011527776.1:c.342G>T XP_011526078.1:p.Leu114Phe
NM_001972.3:c.342G>T NP_001963.1:p.Leu114Phe
NM_001972.4:c.342G>T MANE Select NP_001963.1:p.Leu114Phe
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