Canonical Allele Identifier: CA402919092
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 803509
ClinVar RCV Id: RCV001858720
dbSNP Id: rs1599294750
MyVariant Identifiers: chr19:g.856029C>A (hg19) chr19:g.856029C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856029C>A , CM000681.2:g.856029C>A GRCh38
NC_000019.9:g.856029C>A , CM000681.1:g.856029C>A GRCh37
NC_000019.8:g.807029C>A NCBI36
NG_007274.1:g.1365C>A , LRG_46:g.1365C>A
NG_009627.1:g.8739C>A , LRG_57:g.8739C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.669C>A MANE Select ENSP00000263621.1:p.Cys223Ter
ENST00000263621.1:c.669C>A ENSP00000263621.1:p.Cys223Ter
ENST00000590230.5:c.669C>A ENSP00000466090.1:p.Cys223Ter
NM_001972.2:c.669C>A , LRG_57t1:c.669C>A NP_001963.1:p.Cys223Ter
XM_011527775.1:c.669C>A XP_011526077.1:p.Cys223Ter
XM_011527776.1:c.669C>A XP_011526078.1:p.Cys223Ter
NM_001972.3:c.669C>A NP_001963.1:p.Cys223Ter
NM_001972.4:c.669C>A MANE Select NP_001963.1:p.Cys223Ter
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Search 100 bp 3'