Canonical Allele Identifier: CA9026098

Gene: ELANE

Linked Data

• dbSNP Id: rs545418743
• ExAC: 19:855778 A / C
• gnomAD v2: 19-855778-A-C
• gnomAD v3: 19-855778-A-C
• gnomAD v4: 19-855778-A-C
• MyVariant Identifiers: chr19:g.855778A>C (hg19) ; chr19:g.855778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855778A>C , CM000681.2:g.855778A>C	GRCh38
NC_000019.9:g.855778A>C , CM000681.1:g.855778A>C	GRCh37
NC_000019.8:g.806778A>C	NCBI36
NG_007274.1:g.1114A>C , LRG_46:g.1114A>C
NG_009627.1:g.8488A>C , LRG_57:g.8488A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.581A>C MANE Select	ENSP00000263621.1:p.Gln194Pro
ENST00000263621.1:c.581A>C	ENSP00000263621.1:p.Gln194Pro
ENST00000590230.5:c.581A>C	ENSP00000466090.1:p.Gln194Pro
NM_001972.2:c.581A>C , LRG_57t1:c.581A>C	NP_001963.1:p.Gln194Pro
XM_011527775.1:c.581A>C	XP_011526077.1:p.Gln194Pro
XM_011527776.1:c.581A>C	XP_011526078.1:p.Gln194Pro
NM_001972.3:c.581A>C	NP_001963.1:p.Gln194Pro
NM_001972.4:c.581A>C MANE Select	NP_001963.1:p.Gln194Pro