Canonical Allele Identifier: CA303945312
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 851966
ClinVar RCV Id: RCV001796359
dbSNP Id: rs137854445
gnomAD v3: 19-856019-G-C
gnomAD v4: 19-856019-G-C
MyVariant Identifiers: chr19:g.856019G>C (hg19) chr19:g.856019G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856019G>C , CM000681.2:g.856019G>C GRCh38
NC_000019.9:g.856019G>C , CM000681.1:g.856019G>C GRCh37
NC_000019.8:g.807019G>C NCBI36
NG_007274.1:g.1355G>C , LRG_46:g.1355G>C
NG_009627.1:g.8729G>C , LRG_57:g.8729G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.659G>C MANE Select ENSP00000263621.1:p.Arg220Pro
ENST00000263621.1:c.659G>C ENSP00000263621.1:p.Arg220Pro
ENST00000590230.5:c.659G>C ENSP00000466090.1:p.Arg220Pro
NM_001972.2:c.659G>C , LRG_57t1:c.659G>C NP_001963.1:p.Arg220Pro
XM_011527775.1:c.659G>C XP_011526077.1:p.Arg220Pro
XM_011527776.1:c.659G>C XP_011526078.1:p.Arg220Pro
NM_001972.3:c.659G>C NP_001963.1:p.Arg220Pro
NM_001972.4:c.659G>C MANE Select NP_001963.1:p.Arg220Pro
Search 100 bp 5'
Search 100 bp 3'