Canonical Allele Identifier: CA16040333
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1007342
ClinVar RCV Id: RCV001796431
dbSNP Id: rs1364734771
gnomAD v2: 19-855956-A-C
gnomAD v3: 19-855956-A-C
gnomAD v4: 19-855956-A-C
MyVariant Identifiers: chr19:g.855956A>C (hg19) chr19:g.855956A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855956A>C , CM000681.2:g.855956A>C GRCh38
NC_000019.9:g.855956A>C , CM000681.1:g.855956A>C GRCh37
NC_000019.8:g.806956A>C NCBI36
NG_007274.1:g.1292A>C , LRG_46:g.1292A>C
NG_009627.1:g.8666A>C , LRG_57:g.8666A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.598-2A>C MANE Select ENSP00000263621.1:n.598-2A>C
ENST00000263621.1:c.598-2A>C ENSP00000263621.1:n.598-2A>C
ENST00000590230.5:c.598-2A>C ENSP00000466090.1:n.598-2A>C
NM_001972.2:c.598-2A>C , LRG_57t1:c.598-2A>C NP_001963.1:n.598-2A>C
XM_011527775.1:c.598-2A>C XP_011526077.1:n.598-2A>C
XM_011527776.1:c.598-2A>C XP_011526078.1:n.598-2A>C
NM_001972.3:c.598-2A>C NP_001963.1:n.598-2A>C
NM_001972.4:c.598-2A>C MANE Select NP_001963.1:n.598-2A>C
Search 100 bp 5'
Search 100 bp 3'