Canonical Allele Identifier: CA281059
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 16748
ClinVar RCV Id: RCV000018232 RCV000214338 RCV001336413 RCV001851904
dbSNP Id: rs137854451
COSMIC: COSM4555085
MyVariant Identifiers: chr19:g.856000G>A (hg19) chr19:g.856000G>A (hg38)
PubMed: PMID:11001877 PMID:14962902 PMID:18028488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856000G>A , CM000681.2:g.856000G>A GRCh38
NC_000019.9:g.856000G>A , CM000681.1:g.856000G>A GRCh37
NC_000019.8:g.807000G>A NCBI36
NG_007274.1:g.1336G>A , LRG_46:g.1336G>A
NG_009627.1:g.8710G>A , LRG_57:g.8710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.640G>A MANE Select ENSP00000263621.1:p.Gly214Arg
ENST00000263621.1:c.640G>A ENSP00000263621.1:p.Gly214Arg
ENST00000590230.5:c.640G>A ENSP00000466090.1:p.Gly214Arg
NM_001972.2:c.640G>A , LRG_57t1:c.640G>A NP_001963.1:p.Gly214Arg
XM_011527775.1:c.640G>A XP_011526077.1:p.Gly214Arg
XM_011527776.1:c.640G>A XP_011526078.1:p.Gly214Arg
NM_001972.3:c.640G>A NP_001963.1:p.Gly214Arg
NM_001972.4:c.640G>A MANE Select NP_001963.1:p.Gly214Arg
Search 100 bp 5'
Search 100 bp 3'