Canonical Allele Identifier: CA2499225648

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1163716
• ClinVar RCV Id: RCV001509003 ; RCV002564268
• dbSNP Id: rs2145149093

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855797A>T , CM000681.2:g.855797A>T	GRCh38
NC_000019.9:g.855797A>T , CM000681.1:g.855797A>T	GRCh37
NC_000019.8:g.806797A>T	NCBI36
NG_007274.1:g.1133A>T , LRG_46:g.1133A>T
NG_009627.1:g.8507A>T , LRG_57:g.8507A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+3A>T MANE Select	ENSP00000263621.1:n.597+3A>T
ENST00000263621.1:c.597+3A>T	ENSP00000263621.1:n.597+3A>T
ENST00000590230.5:c.597+3A>T	ENSP00000466090.1:n.597+3A>T
NM_001972.2:c.597+3A>T , LRG_57t1:c.597+3A>T	NP_001963.1:n.597+3A>T
XM_011527775.1:c.597+3A>T	XP_011526077.1:n.597+3A>T
XM_011527776.1:c.597+3A>T	XP_011526078.1:n.597+3A>T
NM_001972.3:c.597+3A>T	NP_001963.1:n.597+3A>T
NM_001972.4:c.597+3A>T MANE Select	NP_001963.1:n.597+3A>T