Canonical Allele Identifier: CA303943298

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1036887
• ClinVar RCV Id: RCV001796451 ; RCV001820036
• dbSNP Id: rs568474579
• gnomAD v2: 19-853342-A-G
• gnomAD v3: 19-853342-A-G
• gnomAD v4: 19-853342-A-G
• MyVariant Identifiers: chr19:g.853342A>G (hg19) ; chr19:g.853342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853342A>G , CM000681.2:g.853342A>G	GRCh38
NC_000019.9:g.853342A>G , CM000681.1:g.853342A>G	GRCh37
NC_000019.8:g.804342A>G	NCBI36
NG_009627.1:g.6052A>G , LRG_57:g.6052A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.305A>G MANE Select	ENSP00000263621.1:p.Gln102Arg
ENST00000263621.1:c.305A>G	ENSP00000263621.1:p.Gln102Arg
ENST00000590230.5:c.305A>G	ENSP00000466090.1:p.Gln102Arg
NM_001972.2:c.305A>G , LRG_57t1:c.305A>G	NP_001963.1:p.Gln102Arg
XM_011527775.1:c.305A>G	XP_011526077.1:p.Gln102Arg
XM_011527776.1:c.305A>G	XP_011526078.1:p.Gln102Arg
NM_001972.3:c.305A>G	NP_001963.1:p.Gln102Arg
NM_001972.4:c.305A>G MANE Select	NP_001963.1:p.Gln102Arg