Canonical Allele Identifier: CA9026145
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 811949
ClinVar RCV Id: RCV001002463 RCV001796341
dbSNP Id: rs760263661
ExAC: 19:856061 C / T
gnomAD v2: 19-856061-C-T
gnomAD v3: 19-856061-C-T
gnomAD v4: 19-856061-C-T
MyVariant Identifiers: chr19:g.856061C>T (hg19) chr19:g.856061C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856061C>T , CM000681.2:g.856061C>T GRCh38
NC_000019.9:g.856061C>T , CM000681.1:g.856061C>T GRCh37
NC_000019.8:g.807061C>T NCBI36
NG_007274.1:g.1397C>T , LRG_46:g.1397C>T
NG_009627.1:g.8771C>T , LRG_57:g.8771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.701C>T MANE Select ENSP00000263621.1:p.Pro234Leu
ENST00000263621.1:c.701C>T ENSP00000263621.1:p.Pro234Leu
ENST00000590230.5:c.701C>T ENSP00000466090.1:p.Pro234Leu
NM_001972.2:c.701C>T , LRG_57t1:c.701C>T NP_001963.1:p.Pro234Leu
XM_011527775.1:c.701C>T XP_011526077.1:p.Pro234Leu
XM_011527776.1:c.701C>T XP_011526078.1:p.Pro234Leu
NM_001972.3:c.701C>T NP_001963.1:p.Pro234Leu
NM_001972.4:c.701C>T MANE Select NP_001963.1:p.Pro234Leu
Search 100 bp 5'
Search 100 bp 3'