Canonical Allele Identifier: CA402918933
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1495685
ClinVar RCV Id: RCV001991511
dbSNP Id: rs2145149526

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855982T>G , CM000681.2:g.855982T>G GRCh38
NC_000019.9:g.855982T>G , CM000681.1:g.855982T>G GRCh37
NC_000019.8:g.806982T>G NCBI36
NG_007274.1:g.1318T>G , LRG_46:g.1318T>G
NG_009627.1:g.8692T>G , LRG_57:g.8692T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.622T>G MANE Select ENSP00000263621.1:p.Cys208Gly
ENST00000263621.1:c.622T>G ENSP00000263621.1:p.Cys208Gly
ENST00000590230.5:c.622T>G ENSP00000466090.1:p.Cys208Gly
NM_001972.2:c.622T>G , LRG_57t1:c.622T>G NP_001963.1:p.Cys208Gly
XM_011527775.1:c.622T>G XP_011526077.1:p.Cys208Gly
XM_011527776.1:c.622T>G XP_011526078.1:p.Cys208Gly
NM_001972.3:c.622T>G NP_001963.1:p.Cys208Gly
NM_001972.4:c.622T>G MANE Select NP_001963.1:p.Cys208Gly