Canonical Allele Identifier: CA402914555

Gene: ELANE

Linked Data

• gnomAD v4: 19-852947-C-G
• MyVariant Identifiers: chr19:g.852947C>G (hg19) ; chr19:g.852947C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852947C>G , CM000681.2:g.852947C>G	GRCh38
NC_000019.9:g.852947C>G , CM000681.1:g.852947C>G	GRCh37
NC_000019.8:g.803947C>G	NCBI36
NG_009627.1:g.5657C>G , LRG_57:g.5657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.139C>G MANE Select	ENSP00000263621.1:p.Leu47Val
ENST00000263621.1:c.139C>G	ENSP00000263621.1:p.Leu47Val
ENST00000590230.5:c.139C>G	ENSP00000466090.1:p.Leu47Val
NM_001972.2:c.139C>G , LRG_57t1:c.139C>G	NP_001963.1:p.Leu47Val
XM_011527775.1:c.139C>G	XP_011526077.1:p.Leu47Val
XM_011527776.1:c.139C>G	XP_011526078.1:p.Leu47Val
NM_001972.3:c.139C>G	NP_001963.1:p.Leu47Val
NM_001972.4:c.139C>G MANE Select	NP_001963.1:p.Leu47Val