Canonical Allele Identifier: CA402918718

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1061538
• ClinVar RCV Id: RCV001796467
• dbSNP Id: rs1322572531
• gnomAD v4: 19-855766-T-G
• MyVariant Identifiers: chr19:g.855766T>G (hg19) ; chr19:g.855766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855766T>G , CM000681.2:g.855766T>G	GRCh38
NC_000019.9:g.855766T>G , CM000681.1:g.855766T>G	GRCh37
NC_000019.8:g.806766T>G	NCBI36
NG_007274.1:g.1102T>G , LRG_46:g.1102T>G
NG_009627.1:g.8476T>G , LRG_57:g.8476T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.569T>G MANE Select	ENSP00000263621.1:p.Val190Gly
ENST00000263621.1:c.569T>G	ENSP00000263621.1:p.Val190Gly
ENST00000590230.5:c.569T>G	ENSP00000466090.1:p.Val190Gly
NM_001972.2:c.569T>G , LRG_57t1:c.569T>G	NP_001963.1:p.Val190Gly
XM_011527775.1:c.569T>G	XP_011526077.1:p.Val190Gly
XM_011527776.1:c.569T>G	XP_011526078.1:p.Val190Gly
NM_001972.3:c.569T>G	NP_001963.1:p.Val190Gly
NM_001972.4:c.569T>G MANE Select	NP_001963.1:p.Val190Gly