Canonical Allele Identifier: CA16608330
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 390193
ClinVar RCV Id: RCV000418532
dbSNP Id: rs961341040
gnomAD v2: 19-856179-G-T
gnomAD v3: 19-856179-G-T
gnomAD v4: 19-856179-G-T
MyVariant Identifiers: chr19:g.856179G>T (hg19) chr19:g.856179G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856179G>T , CM000681.2:g.856179G>T GRCh38
NC_000019.9:g.856179G>T , CM000681.1:g.856179G>T GRCh37
NC_000019.8:g.807179G>T NCBI36
NG_007274.1:g.1515G>T , LRG_46:g.1515G>T
NG_009627.1:g.8889G>T , LRG_57:g.8889G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*15G>T MANE Select ENSP00000263621.1:n.*15G>T
ENST00000263621.1:c.*15G>T ENSP00000263621.1:n.*15G>T
ENST00000590230.5:c.*15G>T ENSP00000466090.1:n.*15G>T
NM_001972.2:c.*15G>T , LRG_57t1:c.*15G>T NP_001963.1:n.*15G>T
XM_011527775.1:c.*15G>T XP_011526077.1:n.*15G>T
XM_011527776.1:c.*15G>T XP_011526078.1:n.*15G>T
NM_001972.3:c.*15G>T NP_001963.1:n.*15G>T
NM_001972.4:c.*15G>T MANE Select NP_001963.1:n.*15G>T
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