Canonical Allele Identifier: CA9025901

Gene: ELANE

Linked Data

• ClinVar Variation Id: 242276
• ClinVar RCV Id: RCV000230281 ; RCV002518391
• dbSNP Id: rs201961347
• ExAC: 19:852351 C / T
• gnomAD v2: 19-852351-C-T
• gnomAD v3: 19-852351-C-T
• gnomAD v4: 19-852351-C-T
• COSMIC: COSM4083032
• MyVariant Identifiers: chr19:g.852351C>T (hg19) ; chr19:g.852351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852351C>T , CM000681.2:g.852351C>T	GRCh38
NC_000019.9:g.852351C>T , CM000681.1:g.852351C>T	GRCh37
NC_000019.8:g.803351C>T	NCBI36
NG_009627.1:g.5061C>T , LRG_57:g.5061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.23C>T MANE Select	ENSP00000263621.1:p.Ala8Val
ENST00000263621.1:c.23C>T	ENSP00000263621.1:p.Ala8Val
ENST00000590230.5:c.23C>T	ENSP00000466090.1:p.Ala8Val
NM_001972.2:c.23C>T , LRG_57t1:c.23C>T	NP_001963.1:p.Ala8Val
XM_011527775.1:c.23C>T	XP_011526077.1:p.Ala8Val
XM_011527776.1:c.23C>T	XP_011526078.1:p.Ala8Val
NM_001972.3:c.23C>T	NP_001963.1:p.Ala8Val
NM_001972.4:c.23C>T MANE Select	NP_001963.1:p.Ala8Val