Canonical Allele Identifier: CA402918995
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1806472
ClinVar RCV Id: RCV002472352

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856000G>C , CM000681.2:g.856000G>C GRCh38
NC_000019.9:g.856000G>C , CM000681.1:g.856000G>C GRCh37
NC_000019.8:g.807000G>C NCBI36
NG_007274.1:g.1336G>C , LRG_46:g.1336G>C
NG_009627.1:g.8710G>C , LRG_57:g.8710G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.640G>C MANE Select ENSP00000263621.1:p.Gly214Arg
ENST00000263621.1:c.640G>C ENSP00000263621.1:p.Gly214Arg
ENST00000590230.5:c.640G>C ENSP00000466090.1:p.Gly214Arg
NM_001972.2:c.640G>C , LRG_57t1:c.640G>C NP_001963.1:p.Gly214Arg
XM_011527775.1:c.640G>C XP_011526077.1:p.Gly214Arg
XM_011527776.1:c.640G>C XP_011526078.1:p.Gly214Arg
NM_001972.3:c.640G>C NP_001963.1:p.Gly214Arg
NM_001972.4:c.640G>C MANE Select NP_001963.1:p.Gly214Arg