Canonical Allele Identifier: CA303945207

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1668085
• ClinVar RCV Id: RCV002191593
• dbSNP Id: rs970584462
• gnomAD v2: 19-855939-A-G
• gnomAD v3: 19-855939-A-G
• gnomAD v4: 19-855939-A-G
• MyVariant Identifiers: chr19:g.855939A>G (hg19) ; chr19:g.855939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855939A>G , CM000681.2:g.855939A>G	GRCh38
NC_000019.9:g.855939A>G , CM000681.1:g.855939A>G	GRCh37
NC_000019.8:g.806939A>G	NCBI36
NG_007274.1:g.1275A>G , LRG_46:g.1275A>G
NG_009627.1:g.8649A>G , LRG_57:g.8649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-19A>G MANE Select	ENSP00000263621.1:n.598-19A>G
ENST00000263621.1:c.598-19A>G	ENSP00000263621.1:n.598-19A>G
ENST00000590230.5:c.598-19A>G	ENSP00000466090.1:n.598-19A>G
NM_001972.2:c.598-19A>G , LRG_57t1:c.598-19A>G	NP_001963.1:n.598-19A>G
XM_011527775.1:c.598-19A>G	XP_011526077.1:n.598-19A>G
XM_011527776.1:c.598-19A>G	XP_011526078.1:n.598-19A>G
NM_001972.3:c.598-19A>G	NP_001963.1:n.598-19A>G
NM_001972.4:c.598-19A>G MANE Select	NP_001963.1:n.598-19A>G