Canonical Allele Identifier: CA9026054

Gene: ELANE

Linked Data

• dbSNP Id: rs754743618
• ExAC: 19:855620 G / C
• gnomAD v2: 19-855620-G-C
• gnomAD v4: 19-855620-G-C
• MyVariant Identifiers: chr19:g.855620G>C (hg19) ; chr19:g.855620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855620G>C , CM000681.2:g.855620G>C	GRCh38
NC_000019.9:g.855620G>C , CM000681.1:g.855620G>C	GRCh37
NC_000019.8:g.806620G>C	NCBI36
NG_007274.1:g.956G>C , LRG_46:g.956G>C
NG_009627.1:g.8330G>C , LRG_57:g.8330G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.423G>C MANE Select	ENSP00000263621.1:p.Gln141His
ENST00000263621.1:c.423G>C	ENSP00000263621.1:p.Gln141His
ENST00000590230.5:c.423G>C	ENSP00000466090.1:p.Gln141His
NM_001972.2:c.423G>C , LRG_57t1:c.423G>C	NP_001963.1:p.Gln141His
XM_011527775.1:c.423G>C	XP_011526077.1:p.Gln141His
XM_011527776.1:c.423G>C	XP_011526078.1:p.Gln141His
NM_001972.3:c.423G>C	NP_001963.1:p.Gln141His
NM_001972.4:c.423G>C MANE Select	NP_001963.1:p.Gln141His