Canonical Allele Identifier: CA9026064

Gene: ELANE

Linked Data

• ClinVar Variation Id: 242283
• ClinVar RCV Id: RCV000226068 ; RCV002262838 ; RCV002518392
• dbSNP Id: rs774508567
• ExAC: 19:855639 G / A
• gnomAD v2: 19-855639-G-A
• gnomAD v4: 19-855639-G-A
• MyVariant Identifiers: chr19:g.855639G>A (hg19) ; chr19:g.855639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855639G>A , CM000681.2:g.855639G>A	GRCh38
NC_000019.9:g.855639G>A , CM000681.1:g.855639G>A	GRCh37
NC_000019.8:g.806639G>A	NCBI36
NG_007274.1:g.975G>A , LRG_46:g.975G>A
NG_009627.1:g.8349G>A , LRG_57:g.8349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.442G>A MANE Select	ENSP00000263621.1:p.Gly148Arg
ENST00000263621.1:c.442G>A	ENSP00000263621.1:p.Gly148Arg
ENST00000590230.5:c.442G>A	ENSP00000466090.1:p.Gly148Arg
NM_001972.2:c.442G>A , LRG_57t1:c.442G>A	NP_001963.1:p.Gly148Arg
XM_011527775.1:c.442G>A	XP_011526077.1:p.Gly148Arg
XM_011527776.1:c.442G>A	XP_011526078.1:p.Gly148Arg
NM_001972.3:c.442G>A	NP_001963.1:p.Gly148Arg
NM_001972.4:c.442G>A MANE Select	NP_001963.1:p.Gly148Arg