Canonical Allele Identifier: CA303944780
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1592217
ClinVar RCV Id: RCV002111598
dbSNP Id: rs992902449
gnomAD v2: 19-855632-G-C
gnomAD v4: 19-855632-G-C
MyVariant Identifiers: chr19:g.855632G>C (hg19) chr19:g.855632G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855632G>C , CM000681.2:g.855632G>C GRCh38
NC_000019.9:g.855632G>C , CM000681.1:g.855632G>C GRCh37
NC_000019.8:g.806632G>C NCBI36
NG_007274.1:g.968G>C , LRG_46:g.968G>C
NG_009627.1:g.8342G>C , LRG_57:g.8342G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.435G>C MANE Select ENSP00000263621.1:p.Leu145=
ENST00000263621.1:c.435G>C ENSP00000263621.1:p.Leu145=
ENST00000590230.5:c.435G>C ENSP00000466090.1:p.Leu145=
NM_001972.2:c.435G>C , LRG_57t1:c.435G>C NP_001963.1:p.Leu145=
XM_011527775.1:c.435G>C XP_011526077.1:p.Leu145=
XM_011527776.1:c.435G>C XP_011526078.1:p.Leu145=
NM_001972.3:c.435G>C NP_001963.1:p.Leu145=
NM_001972.4:c.435G>C MANE Select NP_001963.1:p.Leu145=
Search 100 bp 5'
Search 100 bp 3'