Canonical Allele Identifier: CA402919011

Gene: ELANE

Linked Data

• ClinVar Variation Id: 2937101
• ClinVar RCV Id: RCV003791291
• gnomAD v4: 19-856004-T-C
• MyVariant Identifiers: chr19:g.856004T>C (hg19) ; chr19:g.856004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856004T>C , CM000681.2:g.856004T>C	GRCh38
NC_000019.9:g.856004T>C , CM000681.1:g.856004T>C	GRCh37
NC_000019.8:g.807004T>C	NCBI36
NG_007274.1:g.1340T>C , LRG_46:g.1340T>C
NG_009627.1:g.8714T>C , LRG_57:g.8714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.644T>C MANE Select	ENSP00000263621.1:p.Ile215Thr
ENST00000263621.1:c.644T>C	ENSP00000263621.1:p.Ile215Thr
ENST00000590230.5:c.644T>C	ENSP00000466090.1:p.Ile215Thr
NM_001972.2:c.644T>C , LRG_57t1:c.644T>C	NP_001963.1:p.Ile215Thr
XM_011527775.1:c.644T>C	XP_011526077.1:p.Ile215Thr
XM_011527776.1:c.644T>C	XP_011526078.1:p.Ile215Thr
NM_001972.3:c.644T>C	NP_001963.1:p.Ile215Thr
NM_001972.4:c.644T>C MANE Select	NP_001963.1:p.Ile215Thr